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

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 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.

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:



Diseases related to Joubert Syndrome 2

Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

31 (show all 44)
# Description HPO Frequency 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

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:

(show all 13)
# 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. 61 6 56
20036350 2010
3
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 61 56
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
Clinical nosologic and genetic aspects of Joubert and related syndromes. 56
10511339 1999
11
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 56
10508989 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 (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>CSNV Likely pathogenic 371740 rs1057517498 11:61160139-61160139 11:61392667-61392667
6 TMEM216 NM_001173990.3(TMEM216):c.35-2A>GSNV 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>ASNV 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>ASNV 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>GSNV Conflicting interpretations of pathogenicity 257594 rs111371929 11:61165769-61165769 11:61398297-61398297
19 TMEM216 NM_001173990.3(TMEM216):c.*303C>TSNV Conflicting interpretations of pathogenicity 877371 11:61166051-61166051 11:61398579-61398579
20 TMEM216 NM_001173990.3(TMEM216):c.-24C>TSNV 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>CSNV Conflicting interpretations of pathogenicity 305073 rs183785901 11:61159969-61159969 11:61392497-61392497
23 TMEM216 NM_016499.5(TMEM216):c.-288G>ASNV 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>TSNV Uncertain significance 305086 rs886048413 11:61165995-61165995 11:61398523-61398523
26 TMEM216 NM_001173991.2(TMEM216):c.-242C>TSNV 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>TSNV Uncertain significance 305085 rs535550368 11:61165855-61165855 11:61398383-61398383
29 TMEM216 NM_001173990.3(TMEM216):c.*335G>ASNV 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>CSNV Uncertain significance 305074 rs886048411 11:61159976-61159976 11:61392504-61392504
32 TMEM216 NM_001173990.3(TMEM216):c.*372C>TSNV Uncertain significance 305088 rs565159932 11:61166120-61166120 11:61398648-61398648
33 TMEM216 NM_001173990.3(TMEM216):c.*377T>CSNV Uncertain significance 878392 11:61166125-61166125 11:61398653-61398653
34 TMEM216 NM_001173990.3(TMEM216):c.*393C>TSNV Uncertain significance 878393 11:61166141-61166141 11:61398669-61398669
35 TMEM216 NM_001173990.3(TMEM216):c.*525T>GSNV Uncertain significance 878394 11:61166273-61166273 11:61398801-61398801
36 TMEM216 NM_001173990.3(TMEM216):c.*548T>ASNV Uncertain significance 878986 11:61166296-61166296 11:61398824-61398824
37 TMEM216 NC_000011.10:g.61392347A>GSNV 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>CSNV 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>GSNV 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.432-10delinsACindel 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>TSNV Uncertain significance 878304 11:61159840-61159840 11:61392368-61392368
47 TMEM216 NM_001173990.3(TMEM216):c.230-9dupduplication Uncertain significance 557532 rs1554972934 11:61165236-61165237 11:61397764-61397765
48 TMEM216 NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTGindel Uncertain significance 558461 rs1554973024 11:61165732-61165734 11:61398260-61398262
49 TMEM216 NM_001173990.3(TMEM216):c.432-10delinsAAindel 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

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:

(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 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
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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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