JBTS2
MCID: JBR004
MIFTS: 49

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 57 12 20 72 29 13 6 44 15 70
Cerebellooculorenal Syndrome 2 57 12 20 72
Jbts2 57 12 20 72
Cors2 57 12 20 72
Cerebellooculorenal Syndrome 2; Cors2 57
Cerebello-Oculo-Renal Syndrome 2 72
Joubert Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to oculomotor apraxia and pathologic nystagmus, 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 eye, liver and kidney, and related phenotypes are macrocephaly and intellectual disability

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 : 72 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
Joubert Syndrome 37

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 oculomotor apraxia 30.1 NPHP1 AHI1
2 pathologic nystagmus 29.7 TMEM67 MKS1 CEP290
3 arima syndrome 29.6 TMEM216 TMEM138 CEP290 CC2D2A
4 apraxia 29.5 TMEM67 NPHP1 CEP290 CC2D2A AHI1
5 meckel syndrome, type 2 28.5 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
6 spinocerebellar ataxia 29 27.2 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1 CEP290
7 joubert syndrome 1 26.3 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
8 meckel syndrome, type 1 26.3 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
9 joubert syndrome 16 11.0
10 retinal aplasia 10.2 NPHP1 CEP290
11 joubert syndrome 14 10.1 TMEM216 B9D2
12 joubert syndrome 15 10.1 RPGRIP1L NPHP1 CC2D2A
13 alstrom syndrome 10.0 RPGRIP1L CEP290
14 nephronophthisis 18 10.0 NPHP1 C2CD3
15 leber congenital amaurosis 6 10.0 MKS1 CEP290
16 nephronophthisis 15 10.0 NPHP1 C2CD3
17 bardet-biedl syndrome 13 10.0 MKS1 CEP290
18 acrocallosal syndrome 10.0 TMEM216 RPGRIP1L NPHP1 AHI1
19 meningocele 10.0 TMEM67 C2CD3
20 bardet-biedl syndrome 8 9.9 MKS1 CEP290
21 orofaciodigital syndrome i 9.9 OFD1 CEP290
22 congenital hepatic fibrosis 9.9 TMEM67 RPGRIP1L CC2D2A AHI1
23 oligohydramnios 9.9 TMEM67 MKS1 CC2D2A
24 ataxia and polyneuropathy, adult-onset 9.9
25 hypotonia 9.9
26 nephronophthisis 16 9.9 TMEM67 RPGRIP1L NPHP1 CEP290
27 bardet-biedl syndrome 6 9.9 RPGRIP1L MKS1 CEP290
28 bardet-biedl syndrome 11 9.9 RPGRIP1L MKS1 CEP290
29 simpson-golabi-behmel syndrome, type 2 9.9 OFD1 CEP290
30 bardet-biedl syndrome 3 9.9 MKS1 CEP290
31 juvenile nephronophthisis 9.9 TMEM67 NPHP1 CEP290 AHI1
32 retinitis pigmentosa 2 9.9 CEP290 ARL13B
33 polycystic kidney disease 2 with or without polycystic liver disease 9.9 TMEM67 MKS1 ARL13B
34 orofaciodigital syndrome v 9.8 OFD1 C2CD3
35 retinal degeneration 9.8 TMEM67 RPGRIP1L NPHP1 CEP290
36 nephronophthisis 1 9.8 NPHP1 MKS1 B9D2 AHI1
37 renal-hepatic-pancreatic dysplasia 9.8 OFD1 NPHP1 CEP290
38 cogan syndrome 9.7 RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
39 meckel syndrome, type 7 9.7 TMEM216 MKS1 CC2D2A B9D2
40 joubert syndrome 24 9.7 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
41 bardet-biedl syndrome 1 9.7 TMEM67 TMEM216 NPHP1 MKS1 CEP290
42 johanson-blizzard syndrome 9.7 TMEM216 TMEM138 RPGRIP1L CEP290 CC2D2A
43 cone dystrophy 9.7 CEP290 CC2D2A AHI1
44 orofaciodigital syndrome iv 9.7 TMEM216 OFD1 C2CD3
45 kidney disease 9.7 TMEM67 NPHP1 MKS1 CEP290 CC2D2A
46 nephronophthisis 11 9.6 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
47 nephronophthisis 12 9.6 TMEM138 RPGRIP1L NPHP1 CEP290 B9D2
48 ciliopathy 9.5 TMEM67 RPGRIP1L CEP290 CC2D2A C2CD3
49 short-rib thoracic dysplasia 6 with or without polydactyly 9.5 TMEM67 TMEM216 OFD1 C2CD3
50 encephalocele 9.5 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 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 failure to thrive 31 HP:0001508
4 frontal bossing 31 HP:0002007
5 nystagmus 31 HP:0000639
6 ataxia 31 HP:0001251
7 high palate 31 HP:0000218
8 hydrocephalus 31 HP:0000238
9 global developmental delay 31 HP:0001263
10 depressed nasal bridge 31 HP:0005280
11 hypertelorism 31 HP:0000316
12 visual impairment 31 HP:0000505
13 low-set ears 31 HP:0000369
14 dolichocephaly 31 HP:0000268
15 chorioretinal coloboma 31 HP:0000567
16 microphthalmia 31 HP:0000568
17 optic nerve coloboma 31 HP:0000588
18 nephronophthisis 31 HP:0000090
19 postaxial hand polydactyly 31 HP:0001162
20 encephalocele 31 HP:0002084
21 retinal dystrophy 31 HP:0000556
22 molar tooth sign on mri 31 HP:0002419
23 renal cyst 31 HP:0000107
24 oculomotor apraxia 31 HP:0000657
25 generalized hypotonia 31 HP:0001290
26 central apnea 31 HP:0002871
27 episodic tachypnea 31 HP:0002876
28 hypoplastic male external genitalia 31 HP:0000050
29 esotropia 31 HP:0000565
30 dysgenesis of the cerebellar vermis 31 HP:0002195
31 agenesis of cerebellar vermis 31 HP:0002335
32 abnormal corpus callosum morphology 31 HP:0001273
33 abnormal renal physiology 31 HP:0012211
34 brainstem dysplasia 31 HP:0002508
35 hypoplasia of the brainstem 31 HP:0002365
36 abnormal saccadic eye movements 31 HP:0000570
37 impaired smooth pursuit 31 HP:0007772
38 abnormality of ocular smooth pursuit 31 HP:0000617
39 elongated superior cerebellar peduncle 31 HP:0011933
40 hypotonia 31 HP:0001252
41 abnormal foot morphology 31 HP:0001760
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®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
dolichocephaly

Head And Neck Face:
frontal bossing

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

Growth Other:
failure to thrive

Head And Neck Eyes:
nystagmus
hypertelorism
visual impairment
chorioretinal coloboma
microphthalmia
more
Head And Neck Nose:
depressed nasal bridge

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 (Updated 20-May-2021)

UMLS symptoms related to Joubert Syndrome 2:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 2:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
2 cardiovascular system MP:0005385 10.18 B9D2 C2CD3 CC2D2A CEP290 MKS1 OFD1
3 growth/size/body region MP:0005378 10.17 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
4 mortality/aging MP:0010768 10.07 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
5 embryo MP:0005380 10.06 ARL13B B9D2 C2CD3 CC2D2A MKS1 OFD1
6 nervous system MP:0003631 10.06 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
7 craniofacial MP:0005382 10.04 B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
8 renal/urinary system MP:0005367 9.96 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
9 digestive/alimentary MP:0005381 9.95 B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TMEM67
10 limbs/digits/tail MP:0005371 9.95 B9D2 C2CD3 CC2D2A MKS1 OFD1 RPGRIP1L
11 respiratory system MP:0005388 9.7 ARL13B B9D2 CC2D2A CEP290 MKS1 OFD1
12 skeleton MP:0005390 9.5 B9D2 CEP290 MKS1 OFD1 RPGRIP1L TMEM138
13 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
Eye, Liver, Kidney, Brain

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

(show all 14)
# Title Authors PMID Year
1
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 61 6 57
20512146 2010
2
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 57 61 6
20036350 2010
3
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 57 61
15786477 2005
4
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 6
28497568 2017
5
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 6
26673778 2016
6
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015
7
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 6
23351400 2012
8
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 6
22282472 2012
9
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. 57
12917796 2003
10
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 57
12908130 2003
11
Clinical nosologic and genetic aspects of Joubert and related syndromes. 57
10511339 1999
12
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 57
10508989 1999
13
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. 57
9373798 1997
14
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 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM216 NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) SNV Pathogenic 198 rs201108965 GRCh37: 11:61161437-61161437
GRCh38: 11:61393965-61393965
2 TMEM216 NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) SNV Pathogenic 217704 rs755459875 GRCh37: 11:61165414-61165414
GRCh38: 11:61397942-61397942
3 TMEM216 NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) SNV Pathogenic 217705 rs779526456 GRCh37: 11:61161436-61161436
GRCh38: 11:61393964-61393964
4 TMEM216 NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) SNV Pathogenic 56384 rs11230683 GRCh37: 11:61165269-61165269
GRCh38: 11:61397797-61397797
5 TMEM216 NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) SNV Pathogenic 197 rs201108965 GRCh37: 11:61161437-61161437
GRCh38: 11:61393965-61393965
6 TMEM216 NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) SNV Pathogenic/Likely pathogenic 56384 rs11230683 GRCh37: 11:61165269-61165269
GRCh38: 11:61397797-61397797
7 TMEM216 NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) Deletion Likely pathogenic 551831 rs1554972556 GRCh37: 11:61161380-61161384
GRCh38: 11:61393908-61393912
8 TMEM216 NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) SNV Likely pathogenic 554706 rs147267631 GRCh37: 11:61165352-61165352
GRCh38: 11:61397880-61397880
9 TMEM216 NM_001173990.3(TMEM216):c.137-1G>A SNV Likely pathogenic 558218 rs1554972547 GRCh37: 11:61161355-61161355
GRCh38: 11:61393883-61393883
10 TMEM216 NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) Insertion Likely pathogenic 558417 rs1554972958 GRCh37: 11:61165332-61165333
GRCh38: 11:61397860-61397861
11 TMEM216 NM_001173990.3(TMEM216):c.228del (p.Phe76fs) Deletion Likely pathogenic 371763 rs767384710 GRCh37: 11:61161442-61161442
GRCh38: 11:61393970-61393970
12 TMEM216 NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) Duplication Likely pathogenic 371710 rs767384710 GRCh37: 11:61161441-61161442
GRCh38: 11:61393969-61393970
13 TMEM216 NM_001173990.3(TMEM216):c.35-2A>G SNV Likely pathogenic 371778 rs1057517528 GRCh37: 11:61160701-61160701
GRCh38: 11:61393229-61393229
14 TMEM216 NM_001173990.3(TMEM216):c.34+2T>C SNV Likely pathogenic 371740 rs1057517498 GRCh37: 11:61160139-61160139
GRCh38: 11:61392667-61392667
15 TMEM216 NM_001173990.3(TMEM216):c.222del (p.Phe76fs) Deletion Likely pathogenic 371759 rs1057517512 GRCh37: 11:61161441-61161441
GRCh38: 11:61393969-61393969
16 TMEM216 NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) SNV Likely pathogenic 217706 rs541666319 GRCh37: 11:61161435-61161435
GRCh38: 11:61393963-61393963
17 TMEM216 NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) SNV Likely pathogenic 197 rs201108965 GRCh37: 11:61161437-61161437
GRCh38: 11:61393965-61393965
18 TMEM216 NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) SNV Uncertain significance 289981 rs762918371 GRCh37: 11:61161359-61161359
GRCh38: 11:61393887-61393887
19 TMEM216 NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) SNV Uncertain significance 991119 GRCh37: 11:61165352-61165352
GRCh38: 11:61397880-61397880
20 TMEM216 NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) SNV Uncertain significance 305078 rs201614099 GRCh37: 11:61165305-61165305
GRCh38: 11:61397833-61397833
21 TMEM216 NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) SNV Uncertain significance 289981 rs762918371 GRCh37: 11:61161359-61161359
GRCh38: 11:61393887-61393887
22 TMEM216 NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) SNV Uncertain significance 305080 rs200289511 GRCh37: 11:61165374-61165374
GRCh38: 11:61397902-61397902
23 TMEM216 NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) SNV Uncertain significance 305081 rs749351351 GRCh37: 11:61165436-61165436
GRCh38: 11:61397964-61397964
24 TMEM216 NC_000011.10:g.61392347A>G SNV Uncertain significance 878303 GRCh37: 11:61159819-61159819
GRCh38: 11:61392347-61392347
25 TMEM216 NM_001173991.2(TMEM216):c.-264C>T SNV Uncertain significance 878304 GRCh37: 11:61159840-61159840
GRCh38: 11:61392368-61392368
26 TMEM216 NM_001173990.3(TMEM216):c.*377T>C SNV Uncertain significance 878392 GRCh37: 11:61166125-61166125
GRCh38: 11:61398653-61398653
27 TMEM216 NM_001173990.3(TMEM216):c.*393C>T SNV Uncertain significance 878393 GRCh37: 11:61166141-61166141
GRCh38: 11:61398669-61398669
28 TMEM216 NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) SNV Uncertain significance 878935 GRCh37: 11:61165398-61165398
GRCh38: 11:61397926-61397926
29 TMEM216 NM_001173990.3(TMEM216):c.*525T>G SNV Uncertain significance 878394 GRCh37: 11:61166273-61166273
GRCh38: 11:61398801-61398801
30 TMEM216 NM_001173990.3(TMEM216):c.*548T>A SNV Uncertain significance 878986 GRCh37: 11:61166296-61166296
GRCh38: 11:61398824-61398824
31 TMEM216 NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) SNV Uncertain significance 452672 rs1554972409 GRCh37: 11:61160110-61160110
GRCh38: 11:61392638-61392638
32 TMEM216 NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) SNV Uncertain significance 855127 GRCh37: 11:61160114-61160114
GRCh38: 11:61392642-61392642
33 TMEM216 NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) SNV Uncertain significance 851043 GRCh37: 11:61165270-61165270
GRCh38: 11:61397798-61397798
34 TMEM216 NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) SNV Uncertain significance 700949 rs900061092 GRCh37: 11:61160791-61160791
GRCh38: 11:61393319-61393319
35 TMEM216 NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) SNV Uncertain significance 498870 rs900061092 GRCh37: 11:61160791-61160791
GRCh38: 11:61393319-61393319
36 TMEM216 NM_001173990.3(TMEM216):c.229+10G>A SNV Uncertain significance 704104 rs1590642512 GRCh37: 11:61161458-61161458
GRCh38: 11:61393986-61393986
37 TMEM216 NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) SNV Uncertain significance 701104 rs528921796 GRCh37: 11:61165340-61165340
GRCh38: 11:61397868-61397868
38 TMEM216 NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) SNV Uncertain significance 991117 GRCh37: 11:61160129-61160129
GRCh38: 11:61392657-61392657
39 TMEM216 NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) SNV Uncertain significance 597583 rs568253718 GRCh37: 11:61160781-61160781
GRCh38: 11:61393309-61393309
40 TMEM216 NM_001173990.3(TMEM216):c.137-7T>C SNV Uncertain significance 991118 GRCh37: 11:61161349-61161349
GRCh38: 11:61393877-61393877
41 TMEM216 NM_001173990.3(TMEM216):c.*93T>C SNV Uncertain significance 305084 rs746881860 GRCh37: 11:61165841-61165841
GRCh38: 11:61398369-61398369
42 TMEM216 NM_001173991.2(TMEM216):c.-242C>T SNV Uncertain significance 305072 rs756981776 GRCh37: 11:61159862-61159862
GRCh38: 11:61392390-61392390
43 TMEM216 NM_001173990.3(TMEM216):c.*247C>T SNV Uncertain significance 305086 rs886048413 GRCh37: 11:61165995-61165995
GRCh38: 11:61398523-61398523
44 TMEM216 NM_001173990.3(TMEM216):c.*107G>T SNV Uncertain significance 305085 rs535550368 GRCh37: 11:61165855-61165855
GRCh38: 11:61398383-61398383
45 TMEM216 NM_001173990.3(TMEM216):c.*335G>A SNV Uncertain significance 305087 rs886048414 GRCh37: 11:61166083-61166083
GRCh38: 11:61398611-61398611
46 TMEM216 NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) SNV Uncertain significance 305079 rs752216307 GRCh37: 11:61165360-61165360
GRCh38: 11:61397888-61397888
47 TMEM216 NM_016499.5(TMEM216):c.-325A>C SNV Uncertain significance 305074 rs886048411 GRCh37: 11:61159976-61159976
GRCh38: 11:61392504-61392504
48 TMEM216 NM_001173990.3(TMEM216):c.*372C>T SNV Uncertain significance 305088 rs565159932 GRCh37: 11:61166120-61166120
GRCh38: 11:61398648-61398648
49 TMEM216 NM_001173990.3(TMEM216):c.-24C>T SNV Uncertain significance 305076 rs59493015 GRCh37: 11:61160080-61160080
GRCh38: 11:61392608-61392608
50 TMEM216 NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG Indel Uncertain significance 558461 rs1554973024 GRCh37: 11:61165732-61165734
GRCh38: 11:61398260-61398262

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

72
# 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 10.25 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2 cytosol GO:0005829 10.18 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3 cytoskeleton GO:0005856 10.11 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
4 centrosome GO:0005813 10.01 TMEM67 RPGRIP1L OFD1 MKS1 CEP290 C2CD3
5 ciliary basal body GO:0036064 9.87 RPGRIP1L OFD1 MKS1 CEP290 C2CD3 B9D2
6 microtubule organizing center GO:0005815 9.83 RPGRIP1L OFD1 MKS1 CEP290
7 centriole GO:0005814 9.83 OFD1 MKS1 CEP290 C2CD3 AHI1
8 MKS complex GO:0036038 9.8 TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
9 cilium GO:0005929 9.73 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
10 cell-cell junction GO:0005911 9.72 RPGRIP1L NPHP1 AHI1
11 motile cilium GO:0031514 9.71 OFD1 NPHP1 ARL13B
12 ciliary transition zone GO:0035869 9.7 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
13 centriolar satellite GO:0034451 9.67 OFD1 CEP290 C2CD3
14 photoreceptor connecting cilium GO:0032391 9.63 RPGRIP1L NPHP1 CEP290
15 non-motile cilium GO:0097730 9.56 ARL13B AHI1
16 cell projection GO:0042995 9.44 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.9 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 9.7 TMEM67 TMEM216 TMEM138 OFD1 NPHP1 MKS1
4 determination of left/right symmetry GO:0007368 9.62 RPGRIP1L MKS1 CC2D2A ARL13B
5 heart looping GO:0001947 9.58 C2CD3 ARL13B AHI1
6 regulation of smoothened signaling pathway GO:0008589 9.54 RPGRIP1L MKS1 C2CD3
7 motile cilium assembly GO:0044458 9.52 MKS1 CC2D2A
8 hindbrain development GO:0030902 9.51 CEP290 AHI1
9 head development GO:0060322 9.49 RPGRIP1L MKS1
10 embryonic brain development GO:1990403 9.48 MKS1 CC2D2A
11 left/right axis specification GO:0070986 9.46 ARL13B AHI1
12 neural tube patterning GO:0021532 9.43 RPGRIP1L ARL13B
13 cilium assembly GO:0060271 9.4 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 MKS1

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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