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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cerebellar Diseases (D002526)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Joubert syndrome 2 (C536294)
Child Nodes:
Sister Nodes:
..Baraitser Rodeck Garner syndrome (C537906)
..Brachymesomelia renal syndrome (C537096)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Cystic Kidney Disease with Ventriculomegaly (C565657)
..Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 4 (C536296)
..Joubert Syndrome 7 (C566916)
..Medullary Sponge Kidney (D007691) 1
..Multicystic Dysplastic Kidney (D021782) 2
..NEPHRONOPHTHISIS 11 (OMIM:613550)
..Nephronophthisis 2 (C566582)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..Nephronophthisis, familial juvenile (C537699)
..Polycystic Kidney Diseases (D007690) 21
..Renal cysts and diabetes syndrome (C535520)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken syndrome 4 (C537581)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5982

Name:

Joubert syndrome 2

Definition:

Alternative IDs:

OMIM:608091

ParentIDs:

MESH:D002526|MESH:D005124|MESH:D052177

TreeNumbers:

C10.228.140.252/C536294 |C11.250/C536294 |C12.777.419.403/C536294 |C13.351.968.419.403/C536294 |C16.131.384/C536294

Synonyms:

Cerebellooculorenal syndrome 2 |CORS2 |JBTS2

Slim Mappings:

Congenital abnormality|Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C536294
MeSH: C536294
OMIM: 608091;

Genes: TMEM216;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001273	Abnormal corpus callosum morphology
3	HP:0001760	Abnormal foot morphology
4	HP:0012211	Abnormal renal physiology
5	HP:0000570	Abnormal saccadic eye movements
6	HP:0000617	Abnormality of ocular smooth pursuit
7	HP:0002335	Agenesis of cerebellar vermis
8	HP:0001251	Ataxia
9	HP:0002508	Brainstem dysplasia
10	HP:0002871	Central apnea
11	HP:0000567	Chorioretinal coloboma
12	HP:0005280	Depressed nasal bridge
13	HP:0000268	Dolichocephaly
14	HP:0002195	Dysgenesis of the cerebellar vermis
15	HP:0011933	Elongated superior cerebellar peduncle
16	HP:0002084	Encephalocele
17	HP:0100951	Enlarged fossa interpeduncularis
18	HP:0002876	Episodic tachypnea
19	HP:0000565	Esotropia
20	HP:0001508	Failure to thrive
21	HP:0002007	Frontal bossing
22	HP:0001290	Generalized hypotonia
23	HP:0001263	Global developmental delay
24	HP:0001425	Heterogeneous
25	HP:0000218	High palate
26	HP:0000238	Hydrocephalus
27	HP:0000316	Hypertelorism
28	HP:0002365	Hypoplasia of the brainstem
29	HP:0000050	Hypoplastic male external genitalia
30	HP:0001252	Hypotonia
31	HP:0007772	Impaired smooth pursuit
32	HP:0001249	Intellectual disability
33	HP:0000369	Low-set ears
34	HP:0000256	Macrocephaly
35	HP:0000568	Microphthalmia
36	HP:0002419	Molar tooth sign on MRI
37	HP:0002790	Neonatal breathing dysregulation
38	HP:0000090	Nephronophthisis
39	HP:0000639	Nystagmus
40	HP:0000657	Oculomotor apraxia
41	HP:0000588	Optic disc coloboma
42	HP:0003812	Phenotypic variability
43	HP:0001162	Postaxial hand polydactyly
44	HP:0000107	Renal cyst
45	HP:0000556	Retinal dystrophy
46	HP:0002404	Thickened superior cerebellar peduncle
47	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001173990.2(TMEM216):c.216T>C (p.Ile72=)	51259	TMEM216	Likely pathogenic	541666319	RCV000201571;	N	MedGen:C1842577,OMIM:608091	11	61161435	61161435	NM_001173990.2:c.216T>C	NP_001167461.1:p.Ile72=	NC_000011.9:g.61161435T>C	-	C1842577 608091 Joubert syndrome 2
NM_001173990.2(TMEM216):c.217C>T (p.Arg73Cys)	51259	TMEM216	Pathogenic	779526456	RCV000201742;	N	MedGen:C1842577,OMIM:608091	11	61161436	61161436	NM_001173990.2:c.217C>T	NP_001167461.1:p.Arg73Cys	NC_000011.9:g.61161436C>T	-	C1842577 608091 Joubert syndrome 2
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu)	51259	TMEM216	Pathogenic	201108965	RCV000000220;	N	MedGen:C1842577,OMIM:608091	11	61161437	61161437	NM_001173990.2:c.218G>T	NP_001167461.1:p.Arg73Leu	NC_000011.9:g.61161437G>A,NC_000011.9:g.61161437G>T	OMIM Allelic Variant:613277.0001	C1842577 608091 Joubert syndrome 2
NM_001173990.2(TMEM216):c.218G>A (p.Arg73His)	51259	TMEM216	Pathogenic	201108965	RCV000000221; RCV000024013;	N	MedGen:C1842577,OMIM:608091; MedGen:C1864148,OMIM:603194	11	61161437	61161437	NM_001173990.2:c.218G>A	NP_001167461.1:p.Arg73His	NC_000011.9:g.61161437G>A,NC_000011.9:g.61161437G>T	OMIM Allelic Variant:613277.0002	C1842577 608091 Joubert syndrome 2; C1864148 603194 Meckel syndrome type 2
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter)	51259	TMEM216	Likely pathogenic;Pathogenic	11230683	RCV000201650; RCV000049797;	N	MedGen:C1842577,OMIM:608091; MedGen:C1864148,OMIM:603194	11	61165269	61165269	NM_001173990.2:c.253C>T	NP_001167461.1:p.Arg85Ter	NC_000011.9:g.61165269C>T	-	C1842577 608091 Joubert syndrome 2; C1864148 603194 Meckel syndrome type 2
NM_001173990.2(TMEM216):c.398T>G (p.Leu133Ter)	51259	TMEM216	Pathogenic	755459875	RCV000201555;	N	MedGen:C1842577,OMIM:608091	11	61165414	61165414	NM_001173990.2:c.398T>G	NP_001167461.1:p.Leu133Ter	NC_000011.9:g.61165414T>G	-	C1842577 608091 Joubert syndrome 2