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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Cerebellar Diseases (D002526)
Parent Node: Intellectual Disability (D008607)
Parent Node: Kidney Diseases, Cystic (D052177)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Joubert Syndrome 7 (C566916)
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:

5987

Name:

Joubert Syndrome 7

Definition:

Alternative IDs:

OMIM:611560

ParentIDs:

MESH:D001259|MESH:D002526|MESH:D008607|MESH:D015835|MESH:D052177

TreeNumbers:

C10.228.140.252/C566916 |C10.228.758/C566916 |C10.292.562/C566916 |C10.597.350.090/C566916 |C10.597.606.643/C566916 |C11.590/C566916 |C12.777.419.403/C566916 |C13.351.968.419.403/C566916 |C23.888.592.350.090/C566916 |C23.888.592.604.646/C566916 |F03.550.600/C56691

Synonyms:

JBTS7

Slim Mappings:

Reference:

MedGen: C566916
MeSH: C566916
OMIM: 611560;

Genes: RPGRIP1L;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001273	Abnormal corpus callosum morphology
3	HP:0001251	Ataxia
4	HP:0002508	Brainstem dysplasia
5	HP:0002871	Central apnea
6	HP:0002084	Encephalocele
7	HP:0002876	Episodic tachypnea
8	HP:0001290	Generalized hypotonia
9	HP:0001263	Global developmental delay
10	HP:0001425	Heterogeneous
11	HP:0002365	Hypoplasia of the brainstem
12	HP:0001249	Intellectual disability
13	HP:0002419	Molar tooth sign on MRI
14	HP:0002790	Neonatal breathing dysregulation
15	HP:0000090	Nephronophthisis
16	HP:0000639	Nystagmus
17	HP:0000657	Oculomotor apraxia
18	HP:0003812	Phenotypic variability
19	HP:0001162	Postaxial hand polydactyly
20	HP:0000508	Ptosis
21	HP:0000107	Renal cyst
22	HP:0000556	Retinal dystrophy
23	HP:0002650	Scoliosis

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_015272.3(RPGRIP1L):c.3701+1G>T	23322	RPGRIP1L	Pathogenic	863225219	RCV000201765;	N	MedGen:C1969053,OMIM:611560	16	53644878	53644878	NM_015272.3:c.3701+1G>T		NC_000016.9:g.53644878C>A	-	C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	23322	RPGRIP1L	Pathogenic	778533826	RCV000201661;	N	MedGen:C1969053,OMIM:611560	16	53653024	53653024	NM_015272.3:c.3529C>T	NP_056087.2:p.Arg1177Ter	NC_000016.9:g.53653024G>A	-	C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.3300_3301insTC (p.Ala1101Serfs)	23322	RPGRIP1L	Likely pathogenic	797045104	RCV000190621;	N	MedGen:C1969053,OMIM:611560	16	53656262	53656263	NM_015272.3:c.3300_3301insTC	NP_056087.2:p.Ala1101Serfs	NC_000016.9:g.53656262_53656263insGA	-	C1969053 611560 Joubert syndrome 7
NM_001127897.2(RPGRIP1L):c.2614C>T (p.Gln872Ter)	23322	RPGRIP1L	Pathogenic	121918203	RCV000175207; RCV000033207; RCV000081724;	N	MedGen:C1969052,OMIM:611561; MedGen:C1969053,OMIM:611560; MedGen:CN221809	16	53679606	53679606	NM_001127897.2:c.2614C>T	NP_001121369.1:p.Gln872Ter	NC_000016.9:g.53679606G>A	HGMD:CM073315,OMIM Allelic Variant:610937.0007	C1969053 611560 Joubert syndrome 7; C1969052 611561 Meckel syndrome type 5; CN221809 not provided
NM_015272.3(RPGRIP1L):c.2413C>T (p.Arg805Ter)	23322	RPGRIP1L	Pathogenic	145665129	RCV000001134; RCV000201645;	N	MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:C1969053,OMIM:611560	16	53679807	53679807	NM_015272.3:c.2413C>T	NP_056087.2:p.Arg805Ter	NC_000016.9:g.53679807G>A	OMIM Allelic Variant:610937.0011	C1857662 216360 COACH syndrome; C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.2305-1G>A	23322	RPGRIP1L	Pathogenic	863225215	RCV000201526;	N	MedGen:C1969053,OMIM:611560	16	53679916	53679916	NM_015272.3:c.2305-1G>A		NC_000016.9:g.53679916C>T	-	C1969053 611560 Joubert syndrome 7
NM_001127897.2(RPGRIP1L):c.2269delA (p.Thr757Hisfs*13)	23322	RPGRIP1L	Pathogenic	387906243	RCV000001132;	N	MedGen:C1969053,OMIM:611560	16	53682911	53682911	NM_001127897.2:c.2269delA	NP_001121369.1:p.Thr757Hisfs*13	NC_000016.9:g.53682911delT	OMIM Allelic Variant:610937.0010	C1969053 611560 Joubert syndrome 7
NM_001127897.2(RPGRIP1L):c.2083G>C (p.Ala695Pro)	23322	RPGRIP1L	Pathogenic	121918200	RCV000001126;	N	MedGen:C1969053,OMIM:611560	16	53686516	53686516	NM_001127897.2:c.2083G>C	NP_001121369.1:p.Ala695Pro	NC_000016.9:g.53686516C>G	OMIM Allelic Variant:610937.0004	C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.2050C>T (p.Gln684Ter)	23322	RPGRIP1L	Pathogenic	121918204	RCV000001131;	N	MedGen:C1969053,OMIM:611560	16	53686549	53686549	NM_015272.3:c.2050C>T	NP_056087.2:p.Gln684Ter	NC_000016.9:g.53686549G>A	OMIM Allelic Variant:610937.0009	C1969053 611560 Joubert syndrome 7
NM_001127897.2(RPGRIP1L):c.2030C>T (p.Thr677Ile)	23322	RPGRIP1L	Pathogenic	532768944	RCV000174928; RCV000174929;	N	MedGen:C1969052,OMIM:611561; MedGen:C1969053,OMIM:611560	16	53686569	53686569	NM_001127897.2:c.2030C>T	NP_001121369.1:p.Thr677Ile	NC_000016.9:g.53686569G>A	-	C1969053 611560 Joubert syndrome 7; C1969052 611561 Meckel syndrome type 5
NM_015272.3(RPGRIP1L):c.1975T>C (p.Ser659Pro)	23322	RPGRIP1L	Pathogenic	267607020	RCV000001135; RCV000201757;	N	MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:C1969053,OMIM:611560	16	53686624	53686624	NM_015272.3:c.1975T>C	NP_056087.2:p.Ser659Pro	NC_000016.9:g.53686624A>G	OMIM Allelic Variant:610937.0012	C1857662 216360 COACH syndrome; C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.1843A>C (p.Thr615Pro)	23322	RPGRIP1L	Pathogenic	121918198	RCV000001124;	N	MedGen:C1969053,OMIM:611560	16	53686756	53686756	NM_015272.3:c.1843A>C	NP_056087.2:p.Thr615Pro	NC_000016.9:g.53686756T>G	OMIM Allelic Variant:610937.0002	C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.1721delA (p.Tyr574Leufs)	23322	RPGRIP1L	Pathogenic	863225216	RCV000201652;	N	MedGen:C1969053,OMIM:611560	16	53686878	53686878	NM_015272.3:c.1721delA	NP_056087.2:p.Tyr574Leufs	NC_000016.9:g.53686878delT	-	C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.1709dupA (p.Asp571Glyfs)	23322	RPGRIP1L	Pathogenic	778149316	RCV000168109; RCV000201673;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1969053,OMIM:611560	16	53686890	53686890	NM_015272.3:c.1709dupA	NP_056087.2:p.Asp571Glyfs	NC_000016.9:g.53686890dupT	-	C0431399 213300 Familial aplasia of the vermis; C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.1243+1G>A	23322	RPGRIP1L	Pathogenic	863225218	RCV000201573;	N	MedGen:C1969053,OMIM:611560	16	53698781	53698781	NM_015272.3:c.1243+1G>A		NC_000016.9:g.53698781C>T	-	C1969053 611560 Joubert syndrome 7
NM_001127897.2(RPGRIP1L):c.1158dupA (p.Val387Serfs)	23322	RPGRIP1L	Likely pathogenic	797045918	RCV000195016;	N	MedGen:C1969053,OMIM:611560	16	53698867	53698867	NM_001127897.2:c.1158dupA	NP_001121369.1:p.Val387Serfs	NC_000016.9:g.53698867dupT	-	C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.1132delT (p.Trp378Glyfs)	23322	RPGRIP1L	Pathogenic	863225217	RCV000201745;	N	MedGen:C1969053,OMIM:611560	16	53698893	53698893	NM_015272.3:c.1132delT	NP_056087.2:p.Trp378Glyfs	NC_000016.9:g.53698893delA	-	C1969053 611560 Joubert syndrome 7
NM_001127897.2(RPGRIP1L):c.757C>T (p.Gln253Ter)	23322	RPGRIP1L	Pathogenic	121918199	RCV000001125;	N	MedGen:C1969053,OMIM:611560	16	53720364	53720364	NM_001127897.2:c.757C>T	NP_001121369.1:p.Gln253Ter	NC_000016.9:g.53720364G>A	OMIM Allelic Variant:610937.0003	C1969053 611560 Joubert syndrome 7
NM_001127897.2(RPGRIP1L):c.697A>T (p.Lys233Ter)	23322	RPGRIP1L	Pathogenic	121918197	RCV000001123;	N	MedGen:C1969053,OMIM:611560	16	53720424	53720424	NM_001127897.2:c.697A>T	NP_001121369.1:p.Lys233Ter	NC_000016.9:g.53720424T>A	OMIM Allelic Variant:610937.0001	C1969053 611560 Joubert syndrome 7