Joubert Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS7 MCID: JBR011 MIFTS: 46	Joubert Syndrome 7 (JBTS7) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Joubert Syndrome 7

MalaCards integrated aliases for Joubert Syndrome 7:

Name: Joubert Syndrome 7 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ⁴³ ¹⁵ ⁷¹

Jbts7 ⁵⁶ ¹² ⁷³

Cerebello-Oculo-Renal Syndrome 3 ⁷³

Joubert Syndrome, Type 7 ³⁹

Cors3 ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity
renal phenotype worsens with age
see also meckel syndrome type 5 , an allelic disorder with a more severe phenotype

HPO:

³¹

joubert syndrome 7:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases Eye diseases Respiratory diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111002

OMIM ⁵⁶ 611560

OMIM Phenotypic Series ⁵⁶ PS213300

MeSH ⁴³ C566916 D002526 D005124 more

MedGen ⁴¹ C1969053

SNOMED-CT via HPO ⁶⁸ 111266001 11934000 193662007 more

UMLS ⁷¹ C1969053

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Summaries for Joubert Syndrome 7

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 7: 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.

MalaCards based summary : Joubert Syndrome 7, also known as jbts7, is related to ciliopathy and cone-rod dystrophy 13, and has symptoms including ataxia An important gene associated with Joubert Syndrome 7 is RPGRIP1L (RPGRIP1 Like), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A Joubert syndrome that has material basis in mutation in the RPGRIP1L gene on chromosome 16q12.2.

More information from OMIM: 611560 PS213300

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Related Diseases for Joubert Syndrome 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)

#	Related Disease	Score	Top Affiliating Genes
1	ciliopathy	10.3	TMEM67 RPGRIP1L
2	cone-rod dystrophy 13	10.3	RPGRIP1L RPGRIP1
3	retinal ciliopathy	10.3	RPGRIP1 CEP290
4	joubert syndrome 15	10.3	RPGRIP1L NPHP1
5	retinal aplasia	10.2	NPHP1 CEP290
6	leber congenital amaurosis 10	10.2	RPGRIP1 CEP290
7	leber congenital amaurosis 3	10.2	RPGRIP1 CEP290
8	nephronophthisis 13	10.2	NPHP1 CEP290
9	nephronophthisis 12	10.1	NPHP1 CEP290
10	retinitis pigmentosa 34	10.1	RPGRIP1 OFD1
11	cerebellar hypoplasia	10.1	TMEM67 RPGRIP1L CC2D2A
12	orofaciodigital syndrome i	10.1	OFD1 CEP290
13	alstrom syndrome	10.1	RPGRIP1L NPHP1 CEP290
14	simpson-golabi-behmel syndrome, type 2	10.1	OFD1 CEP290
15	nephronophthisis 4	10.0	RPGRIP1 NPHP1
16	leber congenital amaurosis 4	10.0	RPGRIP1 CEP290
17	bardet-biedl syndrome 13	10.0	MKS1 CEP290
18	arima syndrome	10.0	TMEM216 CEP290 CC2D2A
19	orofaciodigital syndrome iv	10.0	TMEM216 OFD1
20	retinitis pigmentosa 2	10.0	CEP290 ARL13B
21	cogan syndrome	10.0	NPHP1 CEP290 AHI1
22	bardet-biedl syndrome 11	10.0	MKS1 CEP290
23	polydactyly	10.0	MKS1 CEP290 CC2D2A
24	asphyxiating thoracic dystrophy	10.0	RPGRIP1L CEP290 ARL13B
25	bardet-biedl syndrome 6	9.9	RPGRIP1L MKS1 CEP290
26	leber congenital amaurosis 6	9.9	RPGRIP1 MKS1 CEP290
27	joubert syndrome 14	9.9	TMEM216 B9D2
28	retinitis pigmentosa 28	9.9	OFD1 CEP290
29	oligohydramnios	9.9	TMEM67 MKS1 CC2D2A
30	congenital hepatic fibrosis	9.9	TMEM67 RPGRIP1L CC2D2A AHI1
31	oculomotor apraxia	9.9	NPHP1 ARL13B AHI1
32	renal-hepatic-pancreatic dysplasia	9.9	OFD1 NPHP1 CEP290
33	kidney disease	9.9	TMEM67 NPHP1 CEP290 AHI1
34	johanson-blizzard syndrome	9.8	TMEM216 RPGRIP1L CEP290 CC2D2A
35	polycystic kidney disease 2 with or without polycystic liver disease	9.8	TMEM67 MKS1 ARL13B
36	nephronophthisis 1	9.8	NPHP1 B9D2 AHI1
37	meckel syndrome, type 7	9.8	TMEM216 CC2D2A B9D2
38	bardet-biedl syndrome 8	9.8	MKS1 CEP290
39	acrocallosal syndrome	9.6	TMEM216 RPGRIP1L OFD1 AHI1
40	retinal degeneration	9.6	TMEM67 RPGRIP1L RPGRIP1 NPHP1 CEP290
41	nephronophthisis 19	9.6	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
42	bardet-biedl syndrome 3	9.6	MKS1 CEP290
43	joubert syndrome 24	9.5	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
44	pathologic nystagmus	9.5	TMEM67 RPGRIP1 MKS1 CEP290 AHI1
45	nephronophthisis 16	9.5	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290
46	meckel syndrome, type 8	9.4	TMEM67 TMEM216 RPGRIP1L CC2D2A B9D2
47	nephronophthisis 11	9.4	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
48	apraxia	9.3	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 AHI1
49	nephronophthisis 7	9.3	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
50	encephalocele	9.3	TMEM67 MKS1 CEP290 CC2D2A B9D2

Graphical network of the top 20 diseases related to Joubert Syndrome 7:

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Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

³¹ (show all 20)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	global developmental delay ³¹	HP:0001263
3	scoliosis ³¹	HP:0002650
4	ataxia ³¹	HP:0001251
5	nystagmus ³¹	HP:0000639
6	ptosis ³¹	HP:0000508
7	nephronophthisis ³¹	HP:0000090
8	postaxial hand polydactyly ³¹	HP:0001162
9	encephalocele ³¹	HP:0002084
10	retinal dystrophy ³¹	HP:0000556
11	molar tooth sign on mri ³¹	HP:0002419
12	renal cyst ³¹	HP:0000107
13	oculomotor apraxia ³¹	HP:0000657
14	generalized hypotonia ³¹	HP:0001290
15	central apnea ³¹	HP:0002871
16	episodic tachypnea ³¹	HP:0002876
17	abnormal corpus callosum morphology ³¹	HP:0001273
18	brainstem dysplasia ³¹	HP:0002508
19	hypoplasia of the brainstem ³¹	HP:0002365
20	neonatal breathing dysregulation ³¹	HP:0002790

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Spine:
scoliosis

Head And Neck Eyes:
nystagmus
ptosis
oculomotor apraxia
abnormal eye movements
retinal dystrophy (less common)

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

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

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function

Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM:

611560

UMLS symptoms related to Joubert Syndrome 7:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 7:

⁴⁵ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.24	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
2	growth/size/body region	MP:0005378	10.06	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
3	embryo	MP:0005380	10.03	ARL13B B9D2 CC2D2A MKS1 OFD1 RPGRIP1L
4	nervous system	MP:0003631	10.03	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
5	craniofacial	MP:0005382	10.02	B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
6	mortality/aging	MP:0010768	10.02	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
7	digestive/alimentary	MP:0005381	9.93	B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TMEM67
8	limbs/digits/tail	MP:0005371	9.91	B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TMEM67
9	renal/urinary system	MP:0005367	9.85	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
10	respiratory system	MP:0005388	9.5	ARL13B B9D2 CC2D2A CEP290 MKS1 OFD1
11	vision/eye	MP:0005391	9.32	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1

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Drugs & Therapeutics for Joubert Syndrome 7

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 7

Cochrane evidence based reviews: joubert syndrome 7

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Genetic Tests for Joubert Syndrome 7

Genetic tests related to Joubert Syndrome 7:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 7 ²⁹	RPGRIP1L

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Anatomical Context for Joubert Syndrome 7

MalaCards organs/tissues related to Joubert Syndrome 7:

⁴⁰

Eye, Brain

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Publications for Joubert Syndrome 7

Articles related to Joubert Syndrome 7:

#	Title	Authors	PMID	Year
1	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. ⁶ ⁵⁶	Brancati F...Valente EM	18565097	2008
2	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ⁵⁶ ⁶	Arts HH...Roepman R	17558407	2007
3	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. ⁶ ⁵⁶	Delous M...Saunier S	17558409	2007
4	Exome sequencing can improve diagnosis and alter patient management. ⁶	Dixon-Salazar TJ...Gleeson JG	22700954	2012
5	Clinical utility gene card for: Joubert syndrome. ⁶	Valente EM...Dallapiccola B	21448235	2011
6	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁶	Dafinger C...Bolz HJ	21633164	2011
7	Joubert Syndrome ⁶	Parisi M...Glass I	20301500	2003

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Genes for Joubert Syndrome 7

Genes related to Joubert Syndrome 7 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPGRIP1L	RPGRIP1 Like	Protein Coding	1327.41	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18565097 17558407 17558409 (more) 20301500 21448235
2	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	13.47	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	TMEM67	Transmembrane Protein 67	Protein Coding	7.41	DISEASES inferred ¹⁵
4	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	7.38	DISEASES inferred ¹⁵
5	CEP290	Centrosomal Protein 290	Protein Coding	7.3	DISEASES inferred ¹⁵
6	AHI1	Abelson Helper Integration Site 1	Protein Coding	6.93	DISEASES inferred ¹⁵
7	NPHP1	Nephrocystin 1	Protein Coding	6.88	DISEASES inferred ¹⁵
8	TMEM216	Transmembrane Protein 216	Protein Coding	6.81	DISEASES inferred ¹⁵
9	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.72	DISEASES inferred ¹⁵
10	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.4	DISEASES inferred ¹⁵
11	B9D2	B9 Domain Containing 2	Protein Coding	6.2	DISEASES inferred ¹⁵
12	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	6	DISEASES inferred ¹⁵
13	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	5.89	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

⁶ (show top 50) (show all 150) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RPGRIP1L	NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)	SNV	Pathogenic	438669	rs1555616593	16:53730175-53730175	16:53696263-53696263
2	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV	Pathogenic	1069	rs121918198	16:53686756-53686756	16:53652844-53652844
3	RPGRIP1L	NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV	Pathogenic	1070	rs121918199	16:53720364-53720364	16:53686452-53686452
4	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)	SNV	Pathogenic	1071	rs121918200	16:53686516-53686516	16:53652604-53652604
5	RPGRIP1L	RPGRIP1L, 1-BP DEL, 1721A	deletion	Pathogenic	1075
6	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV	Pathogenic	1076	rs121918204	16:53686549-53686549	16:53652637-53652637
7	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)	deletion	Pathogenic	1077	rs387906243	16:53682911-53682911	16:53648999-53648999
8	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV	Pathogenic	1079	rs145665129	16:53679807-53679807	16:53645895-53645895
9	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	SNV	Pathogenic	1080	rs267607020	16:53686624-53686624	16:53652712-53652712
10	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	duplication	Pathogenic	188192	rs778149316	16:53686889-53686890	16:53652977-53652978
11	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3701+1G>T	SNV	Pathogenic	217695	rs863225219	16:53644878-53644878	16:53610966-53610966
12	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	SNV	Pathogenic	217694	rs778533826	16:53653024-53653024	16:53619112-53619112
13	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2305-1G>A	SNV	Pathogenic	217690	rs863225215	16:53679916-53679916	16:53646004-53646004
14	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)	deletion	Pathogenic	217691	rs863225216	16:53686878-53686878	16:53652966-53652966
15	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1243+1G>A	SNV	Pathogenic	217693	rs863225218	16:53698781-53698781	16:53664869-53664869
16	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)	deletion	Pathogenic	217692	rs863225217	16:53698893-53698893	16:53664981-53664981
17	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)	duplication	Likely pathogenic	212060	rs797045918	16:53698866-53698867	16:53664954-53664955
18	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs)	short repeat	Likely pathogenic	208609	rs797045104	16:53656262-53656263	16:53622350-53622351
19	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	SNV	Likely pathogenic	635022	rs1567800920	16:53652959-53652959	16:53619047-53619047
20	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)	SNV	Conflicting interpretations of pathogenicity	95691	rs144313291	16:53674978-53674978	16:53641066-53641066
21	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2153-4G>C	SNV	Conflicting interpretations of pathogenicity	95689	rs201380599	16:53683031-53683031	16:53649119-53649119
22	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)	SNV	Conflicting interpretations of pathogenicity	166909	rs142349647	16:53682940-53682940	16:53649028-53649028
23	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)	SNV	Conflicting interpretations of pathogenicity	167607	rs146902870	16:53656191-53656191	16:53622279-53622279
24	RPGRIP1L	NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)	SNV	Conflicting interpretations of pathogenicity	212064	rs140067659	16:53721875-53721875	16:53687963-53687963
25	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)	SNV	Conflicting interpretations of pathogenicity	194767	rs139503476	16:53679577-53679577	16:53645665-53645665
26	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)	SNV	Conflicting interpretations of pathogenicity	212062	rs146197239	16:53675264-53675264	16:53641352-53641352
27	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV	Conflicting interpretations of pathogenicity	1074	rs121918203	16:53679606-53679606	16:53645694-53645694
28	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)	SNV	Conflicting interpretations of pathogenicity	530906	rs141201084	16:53686895-53686895	16:53652983-53652983
29	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)	SNV	Conflicting interpretations of pathogenicity	423510	rs79524027	16:53690423-53690423	16:53656511-53656511
30	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)	SNV	Conflicting interpretations of pathogenicity	700570		16:53672272-53672272	16:53638360-53638360
31	RPGRIP1L	NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)	SNV	Conflicting interpretations of pathogenicity	699752		16:53730098-53730098	16:53696186-53696186
32	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1033G>A	SNV	Conflicting interpretations of pathogenicity	886238		16:53634955-53634955	16:53601043-53601043
33	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)	SNV	Conflicting interpretations of pathogenicity	241026	rs142317242	16:53652991-53652991	16:53619079-53619079
34	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)	SNV	Conflicting interpretations of pathogenicity	260608	rs138724933	16:53644956-53644956	16:53611044-53611044
35	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)	SNV	Conflicting interpretations of pathogenicity	260607	rs886038619	16:53653102-53653102	16:53619190-53619190
36	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)	SNV	Conflicting interpretations of pathogenicity	260604	rs568801926	16:53656251-53656251	16:53622339-53622339
37	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)	SNV	Conflicting interpretations of pathogenicity	260599	rs775153934	16:53679562-53679562	16:53645650-53645650
38	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)	SNV	Conflicting interpretations of pathogenicity	260597	rs147295026	16:53705453-53705453	16:53671541-53671541
39	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)	SNV	Conflicting interpretations of pathogenicity	281767	rs61742381	16:53679547-53679547	16:53645635-53645635
40	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3616+7A>G	SNV	Conflicting interpretations of pathogenicity	283822	rs373003699	16:53652930-53652930	16:53619018-53619018
41	RPGRIP1L	NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)	SNV	Conflicting interpretations of pathogenicity	319665	rs202149647	16:53726063-53726063	16:53692151-53692151
42	RPGRIP1L	NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)	SNV	Conflicting interpretations of pathogenicity	319666	rs182207372	16:53726204-53726204	16:53692292-53692292
43	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)	SNV	Conflicting interpretations of pathogenicity	235423	rs79708859	16:53698860-53698860	16:53664948-53664948
44	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)	SNV	Conflicting interpretations of pathogenicity	319661	rs141979202	16:53686639-53686639	16:53652727-53652727
45	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)	SNV	Conflicting interpretations of pathogenicity	319655	rs141608712	16:53679538-53679538	16:53645626-53645626
46	RPGRIP1L	NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)	SNV	Conflicting interpretations of pathogenicity	319670	rs146925098	16:53730122-53730122	16:53696210-53696210
47	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3220+13T>C	SNV	Conflicting interpretations of pathogenicity	389310	rs376659273	16:53671594-53671594	16:53637682-53637682
48	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)	SNV	Uncertain significance	319664	rs144023021	16:53705440-53705440	16:53671528-53671528
49	RPGRIP1L	NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)	SNV	Uncertain significance	319668	rs151212590	16:53726256-53726256	16:53692344-53692344
50	RPGRIP1L	NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val)	SNV	Uncertain significance	319667	rs886052098	16:53726214-53726214	16:53692302-53692302

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 7:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RPGRIP1L	p.Thr615Pro	VAR_039393	rs121918198
2	RPGRIP1L	p.Thr677Ile	VAR_039394	rs532768944
3	RPGRIP1L	p.Ala695Pro	VAR_039395	rs121918200
4	RPGRIP1L	p.Gln550Arg	VAR_069234	rs772900011
5	RPGRIP1L	p.Glu393Lys	VAR_076824	rs375776718
6	RPGRIP1L	p.Cys633Arg	VAR_076825	rs898062661

Sources

Expression for Joubert Syndrome 7

Search GEO for disease gene expression data for Joubert Syndrome 7.

Sources

Pathways for Joubert Syndrome 7

Pathways related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.64	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.13	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1

Sources

GO Terms for Joubert Syndrome 7

Cellular components related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.25	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1
2	cytosol	GO:0005829	10.21	TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3	cytoskeleton	GO:0005856	10.11	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1
4	centrosome	GO:0005813	10.01	TRAF3IP1 TMEM67 RPGRIP1L OFD1 MKS1 CEP290
5	ciliary basal body	GO:0036064	9.87	TRAF3IP1 RPGRIP1L OFD1 MKS1 CEP290 B9D2
6	microtubule organizing center	GO:0005815	9.83	RPGRIP1L OFD1 MKS1 CEP290
7	centriole	GO:0005814	9.8	OFD1 MKS1 CEP290 AHI1
8	MKS complex	GO:0036038	9.8	TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
9	cell projection	GO:0042995	9.77	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 OFD1
10	axoneme	GO:0005930	9.76	TRAF3IP1 RPGRIP1L RPGRIP1 ARL13B
11	ciliary transition zone	GO:0035869	9.76	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290
12	photoreceptor connecting cilium	GO:0032391	9.73	RPGRIP1L RPGRIP1 NPHP1 CEP290
13	cell-cell junction	GO:0005911	9.72	RPGRIP1L NPHP1 AHI1
14	motile cilium	GO:0031514	9.71	OFD1 NPHP1 ARL13B
15	non-motile cilium	GO:0097730	9.65	RPGRIP1 ARL13B AHI1
16	cilium	GO:0005929	9.44	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 OFD1

Biological processes related to Joubert Syndrome 7 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	9.85	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2	determination of left/right symmetry	GO:0007368	9.67	RPGRIP1L MKS1 CC2D2A ARL13B
3	non-motile cilium assembly	GO:1905515	9.65	TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
4	cell projection organization	GO:0030030	9.65	TRAF3IP1 TMEM67 TMEM216 OFD1 NPHP1 MKS1
5	motile cilium assembly	GO:0044458	9.55	MKS1 CC2D2A
6	regulation of smoothened signaling pathway	GO:0008589	9.54	RPGRIP1L MKS1
7	axoneme assembly	GO:0035082	9.52	OFD1 CC2D2A
8	hindbrain development	GO:0030902	9.51	CEP290 AHI1
9	neural tube patterning	GO:0021532	9.5	TRAF3IP1 RPGRIP1L ARL13B
10	head development	GO:0060322	9.49	RPGRIP1L MKS1
11	eye photoreceptor cell development	GO:0042462	9.48	RPGRIP1 CEP290
12	embryonic brain development	GO:1990403	9.46	MKS1 CC2D2A
13	left/right axis specification	GO:0070986	9.43	ARL13B AHI1
14	morphogenesis of a polarized epithelium	GO:0001738	9.4	TRAF3IP1 AHI1
15	cilium assembly	GO:0060271	9.36	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1

Molecular functions related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	gamma-tubulin binding	GO:0043015	8.62	OFD1 B9D2

Sources

Sources for Joubert Syndrome 7

¹ BioSystems

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⁵⁶ OMIM

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Joubert Syndrome 7 (JBTS7)

Aliases & Classifications for Joubert Syndrome 7

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Summaries for Joubert Syndrome 7

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Expression for Joubert Syndrome 7

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Pathways related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 7

Cellular components related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

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Sources for Joubert Syndrome 7