Joubert Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS2 MCID: JBR004 MIFTS: 48	Joubert Syndrome 2 (JBTS2) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Name: Joubert Syndrome 2 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ¹³ ⁶ ⁴³ ¹⁵ ⁷¹

Cerebellooculorenal Syndrome 2 ⁵⁶ ¹² ⁵² ⁷³

Jbts2 ⁵⁶ ¹² ⁵² ⁷³

Cors2 ⁵⁶ ¹² ⁵² ⁷³

Cerebellooculorenal Syndrome 2; Cors2 ⁵⁶

Cerebello-Oculo-Renal Syndrome 2 ⁷³

Joubert Syndrome, Type 2 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity

HPO:

³¹

joubert syndrome 2:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Respiratory diseases Nephrological diseases Eye diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110988

OMIM ⁵⁶ 608091

OMIM Phenotypic Series ⁵⁶ PS213300

MeSH ⁴³ C536294 D002526 D005124 more

MedGen ⁴¹ C1842577

UMLS ⁷¹ C1842577

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Summaries for Joubert Syndrome 2

OMIM : ⁵⁶ Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999). (608091)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to oculomotor apraxia and arima syndrome, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2.

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 2: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

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Related Diseases for Joubert Syndrome 2

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10	Joubert Syndrome 2
Joubert Syndrome 3	Joubert Syndrome 4
Joubert Syndrome 5	Joubert Syndrome 6
Joubert Syndrome 7	Joubert Syndrome 9
Joubert Syndrome 8	Joubert Syndrome 13
Joubert Syndrome 14	Joubert Syndrome 15
Joubert Syndrome 16	Joubert Syndrome 17
Joubert Syndrome 18	Joubert Syndrome 20
Joubert Syndrome 21	Joubert Syndrome 22
Joubert Syndrome 23	Joubert Syndrome 24
Joubert Syndrome 25	Joubert Syndrome 26
Joubert Syndrome 27	Joubert Syndrome 28
Joubert Syndrome 30	Joubert Syndrome 32
Joubert Syndrome 31	Joubert Syndrome 33
Joubert Syndrome 35	Joubert Syndrome 36

Diseases related to Joubert Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)

#	Related Disease	Score	Top Affiliating Genes
1	oculomotor apraxia	29.8	NPHP1 ARL13B AHI1
2	arima syndrome	29.5	TMEM216 TMEM138 CEP290 CC2D2A
3	pathologic nystagmus	29.4	TMEM67 MKS1 CEP290 AHI1
4	apraxia	28.4	TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CEP290
5	joubert syndrome 1	24.9	TMEM67 TMEM216 TMEM138 TCTN2 RPGRIP1L OFD1
6	joubert syndrome 16	11.3
7	retinal aplasia	10.3	NPHP1 CEP290
8	joubert syndrome 15	10.2	RPGRIP1L NPHP1
9	nephronophthisis 13	10.2	NPHP1 CEP290
10	nephronophthisis 12	10.2	NPHP1 CEP290
11	cogan syndrome	10.1	NPHP1 CEP290 AHI1
12	orofaciodigital syndrome iv	10.0	TMEM216 OFD1
13	leber congenital amaurosis 6	10.0	MKS1 CEP290
14	alstrom syndrome	10.0	RPGRIP1L NPHP1 CEP290
15	orofaciodigital syndrome i	10.0	OFD1 CEP290
16	cerebellar hypoplasia	10.0	TMEM67 RPGRIP1L CC2D2A
17	retinitis pigmentosa 2	10.0	CEP290 ARL13B
18	bardet-biedl syndrome 13	10.0	MKS1 CEP290
19	simpson-golabi-behmel syndrome, type 2	10.0	OFD1 CEP290
20	kidney disease	9.9	TMEM67 NPHP1 CEP290 AHI1
21	bardet-biedl syndrome 11	9.9	MKS1 CEP290
22	polydactyly	9.9	MKS1 CEP290 CC2D2A
23	ataxia and polyneuropathy, adult-onset	9.9
24	hypotonia	9.9
25	ciliopathy	9.9	TMEM67 RPGRIP1L
26	joubert syndrome 14	9.9	TMEM216 B9D2
27	oligohydramnios	9.9	TMEM67 MKS1 CC2D2A
28	asphyxiating thoracic dystrophy	9.8	RPGRIP1L CEP290 ARL13B
29	renal-hepatic-pancreatic dysplasia	9.8	OFD1 NPHP1 CEP290
30	bardet-biedl syndrome 8	9.8	MKS1 CEP290
31	nephronophthisis 1	9.8	NPHP1 B9D2 AHI1
32	congenital hepatic fibrosis	9.8	TMEM67 RPGRIP1L CC2D2A AHI1
33	bardet-biedl syndrome 6	9.8	RPGRIP1L MKS1 CEP290
34	retinitis pigmentosa 28	9.8	OFD1 CEP290
35	polycystic kidney disease 2 with or without polycystic liver disease	9.8	TMEM67 MKS1 ARL13B
36	meckel syndrome, type 7	9.7	TMEM216 CC2D2A B9D2
37	retinal degeneration	9.7	TMEM67 RPGRIP1L NPHP1 CEP290
38	acrocallosal syndrome	9.6	TMEM216 RPGRIP1L OFD1 AHI1
39	nephronophthisis 19	9.6	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
40	bardet-biedl syndrome 3	9.6	MKS1 CEP290
41	johanson-blizzard syndrome	9.5	TMEM216 TMEM138 RPGRIP1L CEP290 CC2D2A
42	short-rib thoracic dysplasia 6 with or without polydactyly	9.5	TMEM67 TMEM216 TCTN2 OFD1
43	nephronophthisis 16	9.4	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290
44	nephronophthisis 11	9.4	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
45	ellis-van creveld syndrome	9.2	TMEM216 RPGRIP1L OFD1 CEP290 ARL13B
46	bardet-biedl syndrome 14	9.2	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
47	joubert syndrome 24	9.1	TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
48	physical disorder	9.1	TMEM67 OFD1 MKS1 CEP290 ARL13B
49	orofaciodigital syndrome	9.1	TMEM67 TMEM216 OFD1 NPHP1 MKS1 CEP290
50	encephalocele	9.1	TMEM67 MKS1 CEP290 CC2D2A B9D2

Graphical network of the top 20 diseases related to Joubert Syndrome 2:

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Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

³¹ (show all 44)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	global developmental delay ³¹	HP:0001263
3	depressed nasal bridge ³¹	HP:0005280
4	hypertelorism ³¹	HP:0000316
5	muscular hypotonia ³¹	HP:0001252
6	macrocephaly ³¹	HP:0000256
7	hydrocephalus ³¹	HP:0000238
8	visual impairment ³¹	HP:0000505
9	failure to thrive ³¹	HP:0001508
10	ataxia ³¹	HP:0001251
11	nystagmus ³¹	HP:0000639
12	frontal bossing ³¹	HP:0002007
13	high palate ³¹	HP:0000218
14	low-set ears ³¹	HP:0000369
15	dolichocephaly ³¹	HP:0000268
16	chorioretinal coloboma ³¹	HP:0000567
17	microphthalmia ³¹	HP:0000568
18	abnormality of the foot ³¹	HP:0001760
19	optic nerve coloboma ³¹	HP:0000588
20	nephronophthisis ³¹	HP:0000090
21	postaxial hand polydactyly ³¹	HP:0001162
22	encephalocele ³¹	HP:0002084
23	retinal dystrophy ³¹	HP:0000556
24	molar tooth sign on mri ³¹	HP:0002419
25	renal cyst ³¹	HP:0000107
26	oculomotor apraxia ³¹	HP:0000657
27	generalized hypotonia ³¹	HP:0001290
28	central apnea ³¹	HP:0002871
29	episodic tachypnea ³¹	HP:0002876
30	hypoplastic male external genitalia ³¹	HP:0000050
31	esotropia ³¹	HP:0000565
32	dysgenesis of the cerebellar vermis ³¹	HP:0002195
33	agenesis of cerebellar vermis ³¹	HP:0002335
34	abnormal corpus callosum morphology ³¹	HP:0001273
35	impaired smooth pursuit ³¹	HP:0007772
36	abnormal renal physiology ³¹	HP:0012211
37	brainstem dysplasia ³¹	HP:0002508
38	hypoplasia of the brainstem ³¹	HP:0002365
39	abnormality of ocular smooth pursuit ³¹	HP:0000617
40	elongated superior cerebellar peduncle ³¹	HP:0011933
41	abnormal saccadic eye movements ³¹	HP:0000570
42	neonatal breathing dysregulation ³¹	HP:0002790
43	enlarged fossa interpeduncularis ³¹	HP:0100951
44	thickened superior cerebellar peduncle ³¹	HP:0002404

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Nose:
depressed nasal bridge

Head And Neck Head:
macrocephaly
dolichocephaly

Growth Other:
failure to thrive

Head And Neck Ears:
low-set ears

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Abdomen Gastrointestinal:
poor feeding in infancy
swallowing and chewing difficulties

Skeletal Hands:
polydactyly, postaxial

Head And Neck Eyes:
hypertelorism
visual impairment
nystagmus
chorioretinal coloboma
microphthalmia
more

Neurologic Central Nervous System:
hydrocephalus
ataxia
encephalocele
hypoplasia of the brainstem
hypotonia
more

Head And Neck Face:
frontal bossing

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function (variable)

Head And Neck Mouth:
high-arched palate

Genitourinary External Genitalia Male:
hypoplastic genitalia

Skeletal Feet:
polydactyly, postaxial

Clinical features from OMIM:

608091

UMLS symptoms related to Joubert Syndrome 2:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 2:

⁴⁵ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.24	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
2	cardiovascular system	MP:0005385	10.11	B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
3	growth/size/body region	MP:0005378	10.1	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
4	craniofacial	MP:0005382	10.08	B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
5	nervous system	MP:0003631	10.06	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
6	embryo	MP:0005380	10.03	ARL13B B9D2 CC2D2A MKS1 OFD1 RPGRIP1L
7	digestive/alimentary	MP:0005381	10	B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TCTN2
8	renal/urinary system	MP:0005367	9.96	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
9	limbs/digits/tail	MP:0005371	9.91	B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TCTN2
10	respiratory system	MP:0005388	9.7	ARL13B B9D2 CC2D2A CEP290 MKS1 OFD1
11	skeleton	MP:0005390	9.5	B9D2 CEP290 MKS1 OFD1 RPGRIP1L TMEM138
12	vision/eye	MP:0005391	9.28	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1

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Drugs & Therapeutics for Joubert Syndrome 2

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

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Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 2 ²⁹	TMEM216

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Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

⁴⁰

Brain, Eye

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Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

(show all 13)

#	Title	Authors	PMID	Year
1	Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. ⁶¹ ⁵⁶ ⁶	Valente EM...Gleeson JG	20512146	2010
2	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. ⁶¹ ⁶ ⁵⁶	Edvardson S...Elpeleg O	20036350	2010
3	Distinguishing the four genetic causes of Jouberts syndrome-related disorders. ⁶¹ ⁵⁶	Valente EM...Gleeson JG	15786477	2005
4	Exome sequencing can improve diagnosis and alter patient management. ⁶	Dixon-Salazar TJ...Gleeson JG	22700954	2012
5	Clinical utility gene card for: Joubert syndrome. ⁶	Valente EM...Dallapiccola B	21448235	2011
6	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁶	Dafinger C...Bolz HJ	21633164	2011
7	Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. ⁵⁶	Keeler LC...Gleeson JG	12917796	2003
8	Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. ⁵⁶	Valente EM...Dallapiccola B	12908130	2003
9	Joubert Syndrome ⁶	Parisi M...Glass I	20301500	2003
10	Clinical nosologic and genetic aspects of Joubert and related syndromes. ⁵⁶	Chance PF...Dobyns WB	10511339	1999
11	Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. ⁵⁶	Satran D...Dobyns WB	10508989	1999
12	"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. ⁵⁶	Maria BL...Frerking B	9373798	1997
13	C2cd3 is required for cilia formation and Hedgehog signaling in mouse. ⁶¹	Hoover AN...Liu A	19004860	2008

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Genes for Joubert Syndrome 2

Genes related to Joubert Syndrome 2 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM216	Transmembrane Protein 216	Protein Coding	1346.17	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20036350 20512146 20301500 (more) 21448235
2	NPHP1	Nephrocystin 1	Protein Coding	7.53	DISEASES inferred ¹⁵
3	AHI1	Abelson Helper Integration Site 1	Protein Coding	7.44	DISEASES inferred ¹⁵
4	TMEM67	Transmembrane Protein 67	Protein Coding	7.43	DISEASES inferred ¹⁵
5	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	7.4	DISEASES inferred ¹⁵
6	CEP290	Centrosomal Protein 290	Protein Coding	7.37	DISEASES inferred ¹⁵
7	RPGRIP1L	RPGRIP1 Like	Protein Coding	7.31	DISEASES inferred ¹⁵
8	TMEM138	Transmembrane Protein 138	Protein Coding	7.09	DISEASES inferred ¹⁵
9	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.93	DISEASES inferred ¹⁵
10	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.6	DISEASES inferred ¹⁵
11	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	6.4	DISEASES inferred ¹⁵
12	B9D2	B9 Domain Containing 2	Protein Coding	6.19	DISEASES inferred ¹⁵
13	TCTN2	Tectonic Family Member 2	Protein Coding	6.12	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 2

ClinVar genetic disease variations for Joubert Syndrome 2:

⁶ (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TMEM216	NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	SNV	Pathogenic	198	rs201108965	11:61161437-61161437	11:61393965-61393965
2	TMEM216	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	SNV	Pathogenic/Likely pathogenic	56384	rs11230683	11:61165269-61165269	11:61397797-61397797
3	TMEM216	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	SNV	Pathogenic/Likely pathogenic	217704	rs755459875	11:61165414-61165414	11:61397942-61397942
4	TMEM216	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	SNV	Pathogenic/Likely pathogenic	197	rs201108965	11:61161437-61161437	11:61393965-61393965
5	TMEM216	NM_001173990.3(TMEM216):c.34+2T>C	SNV	Likely pathogenic	371740	rs1057517498	11:61160139-61160139	11:61392667-61392667
6	TMEM216	NM_001173990.3(TMEM216):c.35-2A>G	SNV	Likely pathogenic	371778	rs1057517528	11:61160701-61160701	11:61393229-61393229
7	TMEM216	NM_001173990.3(TMEM216):c.222del (p.Phe76fs)	deletion	Likely pathogenic	371759	rs1057517512	11:61161441-61161441	11:61393969-61393969
8	TMEM216	NM_001173990.3(TMEM216):c.228del (p.Phe76fs)	deletion	Likely pathogenic	371763	rs767384710	11:61161442-61161442	11:61393970-61393970
9	TMEM216	NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	duplication	Likely pathogenic	371710	rs767384710	11:61161441-61161442	11:61393969-61393970
10	TMEM216	NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)	insertion	Likely pathogenic	558417	rs1554972958	11:61165332-61165333	11:61397860-61397861
11	TMEM216	NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	SNV	Likely pathogenic	554706	rs147267631	11:61165352-61165352	11:61397880-61397880
12	TMEM216	NM_001173990.3(TMEM216):c.137-1G>A	SNV	Likely pathogenic	558218	rs1554972547	11:61161355-61161355	11:61393883-61393883
13	TMEM216	NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	deletion	Likely pathogenic	551831	rs1554972556	11:61161380-61161384	11:61393908-61393912
14	TMEM216	NM_016499.5(TMEM216):c.-283G>A	SNV	Conflicting interpretations of pathogenicity	878887		11:61160018-61160018	11:61392546-61392546
15	TMEM216	NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)	SNV	Conflicting interpretations of pathogenicity	193189	rs569734777	11:61160108-61160108	11:61392636-61392636
16	TMEM216	NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	SNV	Conflicting interpretations of pathogenicity	217706	rs541666319	11:61161435-61161435	11:61393963-61393963
17	TMEM216	NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	SNV	Conflicting interpretations of pathogenicity	217705	rs779526456	11:61161436-61161436	11:61393964-61393964
18	TMEM216	NM_001173990.3(TMEM216):c.*21A>G	SNV	Conflicting interpretations of pathogenicity	257594	rs111371929	11:61165769-61165769	11:61398297-61398297
19	TMEM216	NM_001173990.3(TMEM216):c.*303C>T	SNV	Conflicting interpretations of pathogenicity	877371		11:61166051-61166051	11:61398579-61398579
20	TMEM216	NM_001173990.3(TMEM216):c.-24C>T	SNV	Conflicting interpretations of pathogenicity	305076	rs59493015	11:61160080-61160080	11:61392608-61392608
21	TMEM216	NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)	SNV	Conflicting interpretations of pathogenicity	305081	rs749351351	11:61165436-61165436	11:61397964-61397964
22	TMEM216	NM_016499.5(TMEM216):c.-332T>C	SNV	Conflicting interpretations of pathogenicity	305073	rs183785901	11:61159969-61159969	11:61392497-61392497
23	TMEM216	NM_016499.5(TMEM216):c.-288G>A	SNV	Conflicting interpretations of pathogenicity	305075	rs557559653	11:61160013-61160013	11:61392541-61392541
24	TMEM216	NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)	SNV	Conflicting interpretations of pathogenicity	305080	rs200289511	11:61165374-61165374	11:61397902-61397902
25	TMEM216	NM_001173990.3(TMEM216):c.*247C>T	SNV	Uncertain significance	305086	rs886048413	11:61165995-61165995	11:61398523-61398523
26	TMEM216	NM_001173991.2(TMEM216):c.-242C>T	SNV	Uncertain significance	305072	rs756981776	11:61159862-61159862	11:61392390-61392390
27	TMEM216	NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)	SNV	Uncertain significance	305079	rs752216307	11:61165360-61165360	11:61397888-61397888
28	TMEM216	NM_001173990.3(TMEM216):c.*107G>T	SNV	Uncertain significance	305085	rs535550368	11:61165855-61165855	11:61398383-61398383
29	TMEM216	NM_001173990.3(TMEM216):c.*335G>A	SNV	Uncertain significance	305087	rs886048414	11:61166083-61166083	11:61398611-61398611
30	TMEM216	NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)	SNV	Uncertain significance	305078	rs201614099	11:61165305-61165305	11:61397833-61397833
31	TMEM216	NM_016499.5(TMEM216):c.-325A>C	SNV	Uncertain significance	305074	rs886048411	11:61159976-61159976	11:61392504-61392504
32	TMEM216	NM_001173990.3(TMEM216):c.*372C>T	SNV	Uncertain significance	305088	rs565159932	11:61166120-61166120	11:61398648-61398648
33	TMEM216	NM_001173990.3(TMEM216):c.*377T>C	SNV	Uncertain significance	878392		11:61166125-61166125	11:61398653-61398653
34	TMEM216	NM_001173990.3(TMEM216):c.*393C>T	SNV	Uncertain significance	878393		11:61166141-61166141	11:61398669-61398669
35	TMEM216	NM_001173990.3(TMEM216):c.*525T>G	SNV	Uncertain significance	878394		11:61166273-61166273	11:61398801-61398801
36	TMEM216	NM_001173990.3(TMEM216):c.*548T>A	SNV	Uncertain significance	878986		11:61166296-61166296	11:61398824-61398824
37	TMEM216	NC_000011.10:g.61392347A>G	SNV	Uncertain significance	878303		11:61159819-61159819
38	TMEM216	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)	SNV	Uncertain significance	289981	rs762918371	11:61161359-61161359	11:61393887-61393887
39	TMEM216	NM_001173990.3(TMEM216):c.*93T>C	SNV	Uncertain significance	305084	rs746881860	11:61165841-61165841	11:61398369-61398369
40	TMEM216	NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)	SNV	Uncertain significance	878935		11:61165398-61165398	11:61397926-61397926
41	TMEM216	NM_001173990.3(TMEM216):c.*190A>G	SNV	Uncertain significance	877370		11:61165938-61165938	11:61398466-61398466
42	TMEM216	NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)	SNV	Uncertain significance	557517	rs1287246452	11:61160104-61160104	11:61392632-61392632
43	TMEM216	NM_001173990.3(TMEM216):c.432-10delinsAC	indel	Uncertain significance	552510	rs1554973021	11:61165732-61165732	11:61398260-61398260
44	TMEM216	NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)	duplication	Uncertain significance	553034	rs1554972964	11:61165353-61165354	11:61397881-61397882
45	TMEM216	NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)	SNV	Uncertain significance	598600	rs769285695	11:61160725-61160725	11:61393253-61393253
46	TMEM216	NM_001173991.2(TMEM216):c.-264C>T	SNV	Uncertain significance	878304		11:61159840-61159840	11:61392368-61392368
47	TMEM216	NM_001173990.3(TMEM216):c.230-9dup	duplication	Uncertain significance	557532	rs1554972934	11:61165236-61165237	11:61397764-61397765
48	TMEM216	NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG	indel	Uncertain significance	558461	rs1554973024	11:61165732-61165734	11:61398260-61398262
49	TMEM216	NM_001173990.3(TMEM216):c.432-10delinsAA	indel	Uncertain significance	557306	rs1554973021	11:61165732-61165732	11:61398260-61398260
50	TMEM216	NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)	deletion	Uncertain significance	557444	rs1554972400	11:61160094-61160113	11:61392622-61392641

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TMEM216	p.Arg73Leu	VAR_063388	rs201108965
2	TMEM216	p.Arg73Cys	VAR_064028	rs779526456
3	TMEM216	p.Arg73His	VAR_064029	rs201108965
4	TMEM216	p.Leu89Phe	VAR_068170	rs780098806

Sources

Expression for Joubert Syndrome 2

Search GEO for disease gene expression data for Joubert Syndrome 2.

Sources

Pathways for Joubert Syndrome 2

Pathways related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.68	TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.13	TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1

Sources

GO Terms for Joubert Syndrome 2

Cellular components related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.24	TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
2	cytosol	GO:0005829	10.21	TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3	cytoskeleton	GO:0005856	10.06	TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
4	centrosome	GO:0005813	9.95	TMEM67 RPGRIP1L OFD1 MKS1 CEP290 B9D2
5	ciliary basal body	GO:0036064	9.85	RPGRIP1L OFD1 MKS1 CEP290 B9D2 AHI1
6	microtubule organizing center	GO:0005815	9.81	RPGRIP1L OFD1 MKS1 CEP290
7	ciliary transition zone	GO:0035869	9.8	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
8	MKS complex	GO:0036038	9.76	TMEM67 TMEM216 TCTN2 MKS1 CEP290 CC2D2A
9	centriole	GO:0005814	9.73	OFD1 MKS1 CEP290 AHI1
10	cilium	GO:0005929	9.73	TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
11	cell-cell junction	GO:0005911	9.71	RPGRIP1L NPHP1 AHI1
12	motile cilium	GO:0031514	9.7	OFD1 NPHP1 ARL13B
13	ciliary membrane	GO:0060170	9.65	TMEM67 TCTN2 ARL13B
14	photoreceptor connecting cilium	GO:0032391	9.63	RPGRIP1L NPHP1 CEP290
15	non-motile cilium	GO:0097730	9.55	ARL13B AHI1
16	cell projection	GO:0042995	9.44	TMEM67 TMEM216 TMEM138 TCTN2 RPGRIP1L OFD1

Biological processes related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body-plasma membrane docking	GO:0097711	9.9	TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
2	cell projection organization	GO:0030030	9.7	TMEM67 TMEM216 TMEM138 TCTN2 OFD1 NPHP1
3	non-motile cilium assembly	GO:1905515	9.65	TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
4	determination of left/right symmetry	GO:0007368	9.62	RPGRIP1L MKS1 CC2D2A ARL13B
5	motile cilium assembly	GO:0044458	9.55	MKS1 CC2D2A
6	regulation of smoothened signaling pathway	GO:0008589	9.54	RPGRIP1L MKS1
7	smoothened signaling pathway	GO:0007224	9.54	TCTN2 CC2D2A ARL13B
8	axoneme assembly	GO:0035082	9.52	OFD1 CC2D2A
9	hindbrain development	GO:0030902	9.51	CEP290 AHI1
10	head development	GO:0060322	9.49	RPGRIP1L MKS1
11	embryonic brain development	GO:1990403	9.48	MKS1 CC2D2A
12	left/right axis specification	GO:0070986	9.46	ARL13B AHI1
13	neural tube patterning	GO:0021532	9.43	RPGRIP1L ARL13B
14	protein localization to ciliary transition zone	GO:1904491	9.4	TCTN2 CC2D2A
15	cilium assembly	GO:0060271	9.4	TMEM67 TMEM216 TMEM138 TCTN2 RPGRIP1L OFD1

Molecular functions related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	gamma-tubulin binding	GO:0043015	8.62	OFD1 B9D2

Sources

Sources for Joubert Syndrome 2

¹ BioSystems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Joubert Syndrome 2 (JBTS2)

Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

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Summaries for Joubert Syndrome 2

Related Diseases for Joubert Syndrome 2

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Symptoms & Phenotypes for Joubert Syndrome 2

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Expression for Joubert Syndrome 2

Pathways for Joubert Syndrome 2

Pathways related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 2

Cellular components related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 2