JBTS2
MCID: JBR004
MIFTS: 47

Joubert Syndrome 2 (JBTS2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



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 joubert syndrome 16 and oculomotor apraxia, 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 macrocephaly and hypertelorism

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.

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

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

(showing 83, show less)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 16 31.6 TMEM216 TMEM138 RFX4
2 oculomotor apraxia 30.0 NPHP1 AHI1
3 arima syndrome 29.7 TMEM216 TMEM138 CEP290 CC2D2A
4 pathologic nystagmus 29.3 TMEM67 MKS1 CEP290 AHI1
5 apraxia 28.5 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
6 joubert syndrome 1 24.9 TMEM67 TMEM216 TMEM138 RPGRIP1L RFX4 OFD1
7 retinal aplasia 10.3 NPHP1 CEP290
8 bardet-biedl syndrome 10 10.3 TMEM216 NPHP1
9 nephronophthisis 13 10.3 NPHP1 CEP290
10 joubert syndrome 14 10.2 TMEM216 RPGRIP1L
11 nephronophthisis 16 10.2 NPHP1 CEP290
12 orofaciodigital syndrome i 10.2 OFD1 CEP290
13 nephronophthisis 12 10.1 TMEM138 NPHP1 CEP290
14 simpson-golabi-behmel syndrome, type 2 10.1 OFD1 CEP290
15 leber congenital amaurosis 6 10.0 MKS1 CEP290
16 nephronophthisis 1 10.0 NPHP1 MKS1 AHI1
17 joubert syndrome 13 10.0 TMEM67 TMEM216 CC2D2A
18 joubert syndrome 21 10.0 TMEM138 NPHP1 ARL13B
19 nephronophthisis 15 10.0 NPHP1 C2CD3
20 acrocallosal syndrome 10.0 TMEM216 RPGRIP1L AHI1
21 bardet-biedl syndrome 13 10.0 MKS1 CEP290
22 orofaciodigital syndrome v 10.0 OFD1 C2CD3
23 bardet-biedl syndrome 4 9.9 OFD1 CEP290
24 renal-hepatic-pancreatic dysplasia 9.9 OFD1 NPHP1 CEP290
25 coach syndrome 9.9 TMEM67 RPGRIP1L CC2D2A
26 ataxia and polyneuropathy, adult-onset 9.9
27 hypotonia 9.9
28 meningocele 9.9 TMEM67 C2CD3
29 bardet-biedl syndrome 8 9.9 MKS1 CEP290
30 cogan syndrome 9.8 NPHP1 CEP290 CC2D2A AHI1
31 oligohydramnios 9.8 TMEM67 MKS1 CC2D2A
32 bardet-biedl syndrome 6 9.8 MKS1 CEP290
33 spinocerebellar ataxia 11 9.8 OFD1 C2CD3
34 polycystic kidney disease 2 with or without polycystic liver disease 9.7 TMEM67 MKS1 ARL13B
35 orofaciodigital syndrome iv 9.7 TMEM216 OFD1 C2CD3
36 congenital hepatic fibrosis 9.7 TMEM67 RPGRIP1L CC2D2A AHI1
37 ciliopathy 9.7 TMEM67 RPGRIP1L C2CD3
38 retinal degeneration 9.7 TMEM67 RPGRIP1L NPHP1 CEP290
39 bardet-biedl syndrome 3 9.6 MKS1 CEP290
40 encephalocele 9.6 TMEM67 MKS1 CEP290 CC2D2A
41 nephronophthisis 19 9.6 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
42 nephronophthisis 14 9.5 TMEM67 RPGRIP1L NPHP1 CEP290 CC2D2A
43 joubert syndrome 24 9.5 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
44 short-rib thoracic dysplasia 6 with or without polydactyly 9.5 TMEM67 TMEM216 OFD1 C2CD3
45 physical disorder 9.4 OFD1 MKS1 CEP290 ARL13B
46 meckel syndrome, type 8 9.4 TMEM67 TMEM216 RPGRIP1L MKS1 CC2D2A
47 ellis-van creveld syndrome 9.3 TMEM216 RPGRIP1L OFD1 CEP290 ARL13B
48 joubert syndrome 9 9.2 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
49 bardet-biedl syndrome 14 9.1 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
50 nephronophthisis 9 9.0 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
51 nephronophthisis 11 9.0 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
52 meckel syndrome, type 6 9.0 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
53 meckel syndrome, type 5 9.0 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
54 meckel syndrome, type 2 9.0 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
55 nephronophthisis 7 8.9 TMEM67 TMEM138 RPGRIP1L NPHP1 MKS1 CEP290
56 nephronophthisis 2 8.9 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
57 short-rib thoracic dysplasia 1 with or without polydactyly 8.8 TMEM67 RPGRIP1L OFD1 NPHP1 CC2D2A ARL13B
58 joubert syndrome 10 8.6 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CC2D2A
59 meckel syndrome, type 4 8.4 TMEM67 TMEM216 TMEM138 RPGRIP1L NPHP1 MKS1
60 joubert syndrome 8 8.4 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
61 joubert syndrome 7 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
62 joubert syndrome 6 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
63 hydrolethalus syndrome 1 8.3 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
64 joubert syndrome 5 8.3 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
65 cranioectodermal dysplasia 1 8.2 TMEM67 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
66 orofaciodigital syndrome 8.1 TMEM67 TMEM216 OFD1 NPHP1 MKS1 CEP290
67 cystic kidney disease 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
68 visceral heterotaxy 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
69 kartagener syndrome 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
70 joubert syndrome 4 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
71 joubert syndrome 3 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
72 senior-loken syndrome 1 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
73 polycystic kidney disease 4 with or without polycystic liver disease 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
74 bardet-biedl syndrome 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
75 leber congenital amaurosis 8.0 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
76 retinitis pigmentosa 7.9 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
77 fundus dystrophy 7.8 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
78 meckel syndrome, type 3 7.8 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
79 coloboma of macula 7.8 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
80 primary ciliary dyskinesia 7.5 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
81 nephronophthisis 7.3 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
82 orofaciodigital syndrome vi 7.3 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
83 meckel syndrome, type 1 7.3 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1

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



Diseases related to Joubert Syndrome 2

Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

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

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
hydrocephalus
ataxia
hypoplasia of the brainstem
encephalocele
hypotonia
more
Head And Neck Nose:
depressed nasal bridge

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

Abdomen Gastrointestinal:
poor feeding in infancy
swallowing and chewing difficulties

Skeletal Hands:
polydactyly, postaxial

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

Growth Other:
failure to thrive

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

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 (showing 10, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 AHI1 ARL13B C2CD3 CC2D2A CEP290 MKS1
2 cardiovascular system MP:0005385 10.08 C2CD3 CC2D2A CEP290 MKS1 OFD1 RFX4
3 mortality/aging MP:0010768 10.02 AHI1 ARL13B C2CD3 CC2D2A CEP290 MKS1
4 embryo MP:0005380 10.01 ARL13B C2CD3 CC2D2A MKS1 OFD1 RFX4
5 nervous system MP:0003631 10 AHI1 ARL13B C2CD3 CC2D2A CEP290 MKS1
6 craniofacial MP:0005382 9.91 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L TMEM67
7 limbs/digits/tail MP:0005371 9.85 C2CD3 CC2D2A MKS1 OFD1 RPGRIP1L TMEM67
8 renal/urinary system MP:0005367 9.81 AHI1 ARL13B CC2D2A CEP290 MKS1 NPHP1
9 respiratory system MP:0005388 9.43 ARL13B CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
10 vision/eye MP:0005391 9.17 AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L

Drugs & Therapeutics for Joubert Syndrome 2

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

# Genetic test Affiliating Genes
1 Joubert Syndrome 2 29 TMEM216

Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

40
Brain, Eye

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

(showing 13, show less)
# Title Authors PMID Year
1
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 61 56 6
20512146 2010
2
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 56 6 61
20036350 2010
3
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 56 61
15786477 2005
4
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
5
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
6
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
7
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. 56
12917796 2003
8
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 56
12908130 2003
9
Joubert Syndrome 6
20301500 2003
10
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 56
10508989 1999
11
Clinical nosologic and genetic aspects of Joubert and related syndromes. 56
10511339 1999
12
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. 56
9373798 1997
13
C2cd3 is required for cilia formation and Hedgehog signaling in mouse. 61
19004860 2008

Variations for Joubert Syndrome 2

ClinVar genetic disease variations for Joubert Syndrome 2:

6 (showing 26, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.164_168del (p.Asn55fs)deletion Likely pathogenic 551831 rs1554972556 11:61161379-61161384 11:61393911-61393915
6 TMEM216 NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)SNV Likely pathogenic 217706 rs541666319 11:61161435-61161435 11:61393963-61393963
7 TMEM216 NM_001173990.3(TMEM216):c.34+2T>CSNV Likely pathogenic 371740 rs1057517498 11:61160139-61160139 11:61392667-61392667
8 TMEM216 NM_001173990.3(TMEM216):c.35-2A>GSNV Likely pathogenic 371778 rs1057517528 11:61160701-61160701 11:61393229-61393229
9 TMEM216 NM_001173990.3(TMEM216):c.222del (p.Phe76fs)deletion Likely pathogenic 371759 rs1057517512 11:61161441-61161441 11:61393969-61393969
10 TMEM216 NM_001173990.3(TMEM216):c.228del (p.Phe76fs)deletion Likely pathogenic 371763 rs767384710 11:61161447-61161447 11:61393975-61393975
11 TMEM216 NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)duplication Likely pathogenic 371710 rs767384710 11:61161447-61161447 11:61393975-61393975
12 TMEM216 NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)insertion Likely pathogenic 558417 rs1554972958 11:61165332-61165332 11:61397860-61397861
13 TMEM216 NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)SNV Likely pathogenic 554706 rs147267631 11:61165352-61165352 11:61397880-61397880
14 TMEM216 NM_001173990.3(TMEM216):c.137-1G>ASNV Likely pathogenic 558218 rs1554972547 11:61161355-61161355 11:61393883-61393883
15 TMEM216 NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)SNV Conflicting interpretations of pathogenicity 217705 rs779526456 11:61161436-61161436 11:61393964-61393964
16 TMEM216 NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)SNV Uncertain significance 557517 rs1287246452 11:61160104-61160104 11:61392632-61392632
17 TMEM216 NM_001173990.3(TMEM216):c.432-10delinsACindel Uncertain significance 552510 rs1554973021 11:61165731-61165732 11:61398260-61398260
18 TMEM216 NM_001173990.3(TMEM216):c.230-9dupduplication Uncertain significance 557532 rs1554972934 11:61165236-61165236 11:61397765-61397765
19 TMEM216 NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTGindel Uncertain significance 558461 rs1554973024 11:61165731-61165734 11:61398260-61398262
20 TMEM216 NM_001173990.3(TMEM216):c.432-10delinsAAindel Uncertain significance 557306 rs1554973021 11:61165731-61165732 11:61398260-61398260
21 TMEM216 NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)deletion Uncertain significance 557444 rs1554972400 11:61160093-61160113 11:61392623-61392642
22 TMEM216 NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)SNV Uncertain significance 557516 rs1554972406 11:61160105-61160105 11:61392633-61392633
23 TMEM216 NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)SNV Uncertain significance 556222 rs1554972406 11:61160105-61160105 11:61392633-61392633
24 TMEM216 NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)duplication Uncertain significance 553034 rs1554972964 11:61165353-61165353 11:61397882-61397882
25 TMEM216 NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)SNV Uncertain significance 289981 rs762918371 11:61161359-61161359 11:61393887-61393887
26 TMEM216 NM_001173990.3(TMEM216):c.34+18_34+21delshort repeat Likely benign 551429 rs940443692 11:61160151-61160155 11:61392683-61392686

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

73 (showing 4, show less)
# 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

Expression for Joubert Syndrome 2

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

Pathways for Joubert Syndrome 2

GO Terms for Joubert Syndrome 2

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

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.24 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2 cytosol GO:0005829 10.2 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3 cytoskeleton GO:0005856 10.07 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
4 cell projection GO:0042995 10.03 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
5 centrosome GO:0005813 9.95 TMEM67 RPGRIP1L OFD1 MKS1 CEP290 C2CD3
6 centriole GO:0005814 9.83 OFD1 MKS1 CEP290 C2CD3 AHI1
7 microtubule organizing center GO:0005815 9.8 RPGRIP1L OFD1 MKS1 CEP290
8 ciliary basal body GO:0036064 9.8 RPGRIP1L OFD1 MKS1 CEP290 C2CD3 AHI1
9 cell-cell junction GO:0005911 9.69 RPGRIP1L NPHP1 AHI1
10 centriolar satellite GO:0034451 9.65 OFD1 CEP290 C2CD3
11 photoreceptor connecting cilium GO:0032391 9.63 RPGRIP1L NPHP1 CEP290
12 MKS complex GO:0036038 9.63 TMEM67 TMEM216 MKS1 CEP290 CC2D2A AHI1
13 non-motile cilium GO:0097730 9.52 ARL13B AHI1
14 ciliary transition zone GO:0035869 9.5 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
15 cilium GO:0005929 9.36 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1

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

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2 non-motile cilium assembly GO:1905515 9.73 TMEM216 RPGRIP1L MKS1 CC2D2A C2CD3 ARL13B
3 cell projection organization GO:0030030 9.65 TMEM67 TMEM216 TMEM138 OFD1 NPHP1 MKS1
4 smoothened signaling pathway GO:0007224 9.63 MKS1 CC2D2A ARL13B
5 determination of left/right symmetry GO:0007368 9.62 RPGRIP1L MKS1 CC2D2A ARL13B
6 heart looping GO:0001947 9.61 C2CD3 ARL13B AHI1
7 telencephalon development GO:0021537 9.55 RPGRIP1L RFX4
8 motile cilium assembly GO:0044458 9.54 MKS1 CC2D2A
9 regulation of smoothened signaling pathway GO:0008589 9.54 RPGRIP1L MKS1 C2CD3
10 hindbrain development GO:0030902 9.52 CEP290 AHI1
11 head development GO:0060322 9.51 RPGRIP1L MKS1
12 left/right axis specification GO:0070986 9.49 ARL13B AHI1
13 embryonic brain development GO:1990403 9.48 MKS1 CC2D2A
14 neural tube patterning GO:0021532 9.4 RPGRIP1L ARL13B
15 cilium assembly GO:0060271 9.4 TMEM67 TMEM216 TMEM138 RPGRIP1L RFX4 OFD1

Sources for Joubert Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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