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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: Kidney Diseases (D007674)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Joubert syndrome 5 (C537688)
Child Nodes:
Sister Nodes:
..Athabaskan brainstem dysgenesis (C535397)
..Diffuse Lewy Body Disease with Gaze Palsy (C565077)
..Duane Retraction Syndrome (D004370) 2
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 7 (C566916)
..Levator-Medial Rectus Synkinesis (C563625)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Miller Fisher Syndrome (D019846)
..Nystagmus, Pathologic (D009759) 25
..Oculomotor Nerve Diseases (D015840) 4
..Ophthalmoplegia (D009886) 41
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Opsoclonus-Myoclonus Syndrome (D053578) 1
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Setting-Sun Phenomenon, Familial Benign (C563470)
..Strabismus (D013285) 13
..Tolosa-Hunt Syndrome (D020333) 1
..Tukel syndrome (C536925)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5985

Name:

Joubert syndrome 5

Definition:

Alternative IDs:

OMIM:610188

ParentIDs:

MESH:D002526|MESH:D007674|MESH:D009123|MESH:D015835

TreeNumbers:

C10.228.140.252/C537688 |C10.228.758/C537688 |C10.292.562/C537688 |C10.597.613.575/C537688 |C11.590/C537688 |C12.777.419/C537688 |C13.351.968.419/C537688 |C23.888.592.608.575/C537688

Synonyms:

JBTS5

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C537688
MeSH: C537688
OMIM: 610188;

Genes: CEP290;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002335	Agenesis of cerebellar vermis
3	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
4	HP:0001251	Ataxia
5	HP:0002871	Central apnea
6	HP:0007875	Congenital blindness
7	HP:0002876	Episodic tachypnea
8	HP:0001290	Generalized hypotonia
9	HP:0001252	Hypotonia
10	HP:0004727	Impaired renal concentrating ability
11	HP:0001249	Intellectual disability
12	HP:0002419	Molar tooth sign on MRI
13	HP:0002790	Neonatal breathing dysregulation
14	HP:0000090	Nephronophthisis
15	HP:0000639	Nystagmus
16	HP:0000547	obsolete Tapetoretinal degeneration
17	HP:0000657	Oculomotor apraxia
18	HP:0000803	Renal cortical cysts
19	HP:0000480	Retinal coloboma
20	HP:0003774	Stage 5 chronic kidney disease
21	HP:0002404	Thickened superior cerebellar peduncle

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_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter)	80184	CEP290	Pathogenic	863225187	RCV000201753;	N	MedGen:C1857780,OMIM:610188	12	88449374	88449374	NM_025114.3:c.6939C>A	NP_079390.3:p.Tyr2313Ter	NC_000012.11:g.88449374G>T	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs)	80184	CEP290	Pathogenic	771454167	RCV000201679;	N	MedGen:C1857780,OMIM:610188	12	88456549	88456549	NM_025114.3:c.6277delG	NP_079390.3:p.Val2093Serfs	NC_000012.11:g.88456549delC	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter)	80184	CEP290	Pathogenic	779262951	RCV000201548;	N	MedGen:C1857780,OMIM:610188	12	88462362	88462362	NM_025114.3:c.6072C>A	NP_079390.3:p.Tyr2024Ter	NC_000012.11:g.88462362G>T	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter)	80184	CEP290	Pathogenic	371525247	RCV000201627;	N	MedGen:C1857780,OMIM:610188	12	88465150	88465150	NM_025114.3:c.5932C>T	NP_079390.3:p.Arg1978Ter	NC_000012.11:g.88465150G>A	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter)	80184	CEP290	Pathogenic	267606719	RCV000201631; RCV000001410;	N	MedGen:C1857780,OMIM:610188; MedGen:C2673874,OMIM:615991	12	88471004	88471004	NM_025114.3:c.5704G>T	NP_079390.3:p.Glu1902Ter	NC_000012.11:g.88471004C>A	OMIM Allelic Variant:610142.0013	C2673874 615991 Bardet-Biedl syndrome 14; C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)	80184	CEP290	Pathogenic	137852832	RCV000001396; RCV000152972; RCV000114202; RCV000086298;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C1857780,OMIM:610188; MedGen:C1857821,OMIM:611755; MedGen:CN221809	12	88471040	88471040	NM_025114.3:c.5668G>T	NP_079390.3:p.Gly1890Ter	NC_000012.11:g.88471040C>A	HGMD:CM061683,OMIM Allelic Variant:610142.0001	C1857780 610188 Joubert syndrome 5; C1857821 611755 Leber congenital amaurosis 10; C0265215 Meckel-Gruber syndrome; CN221809 not provided
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs)	80184	CEP290	Pathogenic	727503853	RCV000201601; RCV000152973;	N	MedGen:C1857780,OMIM:610188; MedGen:CN221809	12	88471094	88471097	NM_025114.3:c.5611_5614delCAAA	NP_079390.3:p.Gln1871Valfs	NC_000012.11:g.88471094_88471097delTTTG	HGMD:CD073591	C1857780 610188 Joubert syndrome 5; CN221809 not provided
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter)	80184	CEP290	Pathogenic	575767207	RCV000201766;	N	MedGen:C1857780,OMIM:610188	12	88472889	88472889	NM_025114.3:c.5344C>T	NP_079390.3:p.Arg1782Ter	NC_000012.11:g.88472889G>A	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter)	80184	CEP290	Pathogenic	370119681	RCV000177953;	N	MedGen:C1857780,OMIM:610188	12	88474003	88474003	NM_025114.3:c.5182G>T	NP_079390.3:p.Glu1728Ter	NC_000012.11:g.88474003C>A	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs)	80184	CEP290	Pathogenic	756302731	RCV000201538;	N	MedGen:C1857780,OMIM:610188	12	88476853	88476854	NM_025114.3:c.4966_4967delGA	NP_079390.3:p.Glu1656Asnfs	NC_000012.11:g.88476853_88476854delTC	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)	80184	CEP290	Pathogenic	376493409	RCV000201672;	N	MedGen:C1857780,OMIM:610188	12	88476938	88476938	NM_025114.3:c.4882C>T	NP_079390.3:p.Gln1628Ter	NC_000012.11:g.88476938G>A	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter)	80184	CEP290	Pathogenic	137852834	RCV000001402; RCV000001403;	N	MedGen:C1857780,OMIM:610188; MedGen:C1857821,OMIM:611755	12	88477713	88477713	NM_025114.3:c.4723A>T	NP_079390.3:p.Lys1575Ter	NC_000012.11:g.88477713T>A	OMIM Allelic Variant:610142.0007	C1857780 610188 Joubert syndrome 5; C1857821 611755 Leber congenital amaurosis 10
NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter)	80184	CEP290	Pathogenic	749439750	RCV000201597;	N	MedGen:C1857780,OMIM:610188	12	88478545	88478545	NM_025114.3:c.4522C>T	NP_079390.3:p.Arg1508Ter	NC_000012.11:g.88478545G>A	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs)	80184	CEP290	Pathogenic	780624853	RCV000201704;	N	MedGen:C1857780,OMIM:610188	12	88478612	88478615	NM_025114.3:c.4452_4455delAGAA	NP_079390.3:p.Lys1484Asnfs	NC_000012.11:g.88478612_88478615delTTCT	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)	80184	CEP290	Pathogenic	539400286	RCV000201563;	N	MedGen:C1857780,OMIM:610188	12	88479860	88479860	NM_025114.3:c.4393C>T	NP_079390.3:p.Arg1465Ter	NC_000012.11:g.88479860G>A	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs)	80184	CEP290	Pathogenic	863225182	RCV000201700;	N	MedGen:C1857780,OMIM:610188	12	88479869	88479869	NM_025114.3:c.4384delG	NP_079390.3:p.Glu1462Argfs	NC_000012.11:g.88479869delC	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter)	80184	CEP290	Likely pathogenic	797044604	RCV000192446;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C1857779,OMIM:610189; MedGen:C1857780,OMIM:610188; MedGen:C1857821,OMIM:611755; MedGen:C1970161,OMIM:611134	12	88480227	88480227	NM_025114.3:c.4243G>T	NP_079390.3:p.Glu1415Ter	NC_000012.11:g.88480227C>A	-	C0752166 209900 Bardet-Biedl syndrome; C1857780 610188 Joubert syndrome 5; C1857821 611755 Leber congenital amaurosis 10; C1970161 611134 Meckel syndrome type 4; C1857779 610189 Senior-Loken syndrome 6
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter)	80184	CEP290	Pathogenic	587783016	RCV000201586; RCV000144467;	N	MedGen:C1857780,OMIM:610188; MedGen:C1857821,OMIM:611755	12	88482934	88482934	NM_025114.3:c.3904C>T	NP_079390.3:p.Gln1302Ter	NC_000012.11:g.88482934G>A	-	C1857780 610188 Joubert syndrome 5; C1857821 611755 Leber congenital amaurosis 10
NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs)	80184	CEP290	Pathogenic	863225189	RCV000201682;	N	MedGen:C1857780,OMIM:610188	12	88487671	88487671	NM_025114.3:c.3185delT	NP_079390.3:p.Leu1062Argfs	NC_000012.11:g.88487671delA	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs)	80184	CEP290	Pathogenic	863225184	RCV000201524;	N	MedGen:C1857780,OMIM:610188	12	88487680	88487680	NM_025114.3:c.3176delT	NP_079390.3:p.Ile1059Lysfs	NC_000012.11:g.88487680delA	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs)	80184	CEP290	Pathogenic	62640570	RCV000201666; RCV000114193; RCV000086287;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C1857780,OMIM:610188; MedGen:CN221809	12	88487681	88487681	NM_025114.3:c.3175dupA	NP_079390.3:p.Ile1059Asnfs	NC_000012.11:g.88487681dupT	-	C1857780 610188 Joubert syndrome 5; C0265215 Meckel-Gruber syndrome; CN221809 not provided
NM_025114.3(CEP290):c.2343T>C (p.Asn781=)	80184	CEP290	Pathogenic	748034744	RCV000201605;	N	MedGen:C1857780,OMIM:610188	12	88505003	88505003	NM_025114.3:c.2343T>C	NP_079390.3:p.Asn781=	NC_000012.11:g.88505003A>G	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs)	80184	CEP290	Pathogenic	863225183	RCV000201612;	N	MedGen:C1857780,OMIM:610188	12	88505576	88505576	NM_025114.3:c.2112delA	NP_079390.3:p.Val705Leufs	NC_000012.11:g.88505576delT	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter)	80184	CEP290	Likely pathogenic;Pathogenic	386834152	RCV000201755; RCV000050146;	N	MedGen:C1857780,OMIM:610188; MedGen:C1970161,OMIM:611134	12	88508265	88508265	NM_025114.3:c.1984C>T	NP_079390.3:p.Gln662Ter	NC_000012.11:g.88508265G>A	-	C1857780 610188 Joubert syndrome 5; C1970161 611134 Meckel syndrome type 4
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs)	80184	CEP290	Pathogenic	747983279	RCV000201771;	N	MedGen:C1857780,OMIM:610188	12	88512305	88512305	NM_025114.3:c.1666delA	NP_079390.3:p.Ile556Phefs	NC_000012.11:g.88512305delT	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs)	80184	CEP290	Pathogenic	769761100	RCV000201724;	N	MedGen:C1857780,OMIM:610188	12	88512305	88512305	NM_025114.3:c.1666dupA	NP_079390.3:p.Ile556Asnfs	NC_000012.11:g.88512305dupT	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.1623+1G>A	80184	CEP290	Pathogenic	863225186	RCV000201746;	N	MedGen:C1857780,OMIM:610188	12	88512419	88512419	NM_025114.3:c.1623+1G>A		NC_000012.11:g.88512419C>T	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs)	80184	CEP290	Likely pathogenic;Pathogenic	386834148	RCV000201718; RCV000050142;	N	MedGen:C1857780,OMIM:610188; MedGen:C1970161,OMIM:611134	12	88514913	88514914	NM_025114.3:c.1219_1220delAT	NP_079390.3:p.Met407Glufs	NC_000012.11:g.88514913_88514914delAT	-	C1857780 610188 Joubert syndrome 5; C1970161 611134 Meckel syndrome type 4
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter)	80184	CEP290	Pathogenic	863225185	RCV000201653;	N	MedGen:C1857780,OMIM:610188	12	88524060	88524060	NM_025114.3:c.654T>G	NP_079390.3:p.Tyr218Ter	NC_000012.11:g.88524060A>C	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs)	80184	CEP290	Pathogenic	758550675	RCV000201609;	N	MedGen:C1857780,OMIM:610188	12	88534746	88534749	NM_025114.3:c.164_167delCTCA	NP_079390.3:p.Thr55Serfs	NC_000012.11:g.88534746_88534749delTGAG	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.103-1G>T	80184	CEP290	Pathogenic	863225188	RCV000201578;	N	MedGen:C1857780,OMIM:610188	12	88534811	88534811	NM_025114.3:c.103-1G>T		NC_000012.11:g.88534811C>A	-	C1857780 610188 Joubert syndrome 5
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys)	80184	CEP290	Pathogenic	62635288	RCV000001398; RCV000086283;	N	MedGen:C1857780,OMIM:610188; MedGen:CN221809	12	88535064	88535064	NM_025114.3:c.21G>T	NP_079390.3:p.Trp7Cys	NC_000012.11:g.88535064C>A	OMIM Allelic Variant:610142.0003	C1857780 610188 Joubert syndrome 5; CN221809 not provided