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Hello! Guest! Please Login or Register! Clinician Mode

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: Ocular Motility Disorders (D015835)
..Starting node ..Joubert syndrome 6 (C537689)
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:

5986

Name:

Joubert syndrome 6

Definition:

Alternative IDs:

OMIM:610688

ParentIDs:

MESH:D002526|MESH:D007674|MESH:D015835

TreeNumbers:

C10.228.140.252/C537689 |C10.228.758/C537689 |C10.292.562/C537689 |C11.590/C537689 |C12.777.419/C537689 |C13.351.968.419/C537689

Synonyms:

JBTS6

Slim Mappings:

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

Reference:

MedGen: C537689
MeSH: C537689
OMIM: 610688;

Genes: TMEM67;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0001408	Bile duct proliferation
4	HP:0000618	Blindness
5	HP:0005957	Breathing dysregulation
6	HP:0001320	Cerebellar vermis hypoplasia
7	HP:0000567	Chorioretinal coloboma
8	HP:0011933	Elongated superior cerebellar peduncle
9	HP:0100951	Enlarged fossa interpeduncularis
10	HP:0001290	Generalized hypotonia
11	HP:0001263	Global developmental delay
12	HP:0001395	Hepatic fibrosis
13	HP:0001425	Heterogeneous
14	HP:0001252	Hypotonia
15	HP:0001249	Intellectual disability
16	HP:0002419	Molar tooth sign on MRI
17	HP:0000090	Nephronophthisis
18	HP:0000657	Oculomotor apraxia
19	HP:0000546	Retinal degeneration
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_153704.5(TMEM67):c.130C>T (p.Gln44Ter)	91147	TMEM67	Pathogenic	267607118	RCV000001456;	N	MedGen:C1853153,OMIM:610688	8	94767272	94767272	NM_153704.5:c.130C>T	NP_714915.3:p.Gln44Ter	NC_000008.10:g.94767272C>T	OMIM Allelic Variant:609884.0022	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.244C>T (p.Pro82Ser)	91147	TMEM67	Pathogenic	762543032	RCV000201641;	N	MedGen:C1853153,OMIM:610688	8	94768026	94768026	NM_153704.5:c.244C>T	NP_714915.3:p.Pro82Ser	NC_000008.10:g.94768026C>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.245C>G (p.Pro82Arg)	91147	TMEM67	Pathogenic	772437766	RCV000201553;	N	MedGen:C1853153,OMIM:610688	8	94768027	94768027	NM_153704.5:c.245C>G	NP_714915.3:p.Pro82Arg	NC_000008.10:g.94768027C>G	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn)	91147	TMEM67	Likely pathogenic;Uncertain significance	797046045	RCV000201747; RCV000192720;	N	MedGen:C1853153,OMIM:610688; MedGen:CN169374	8	94768079	94768079	NM_153704.5:c.297G>T	NP_714915.3:p.Lys99Asn	NC_000008.10:g.94768079G>T	-	C1853153 610688 Joubert syndrome 6; CN169374 not specified
NM_153704.5(TMEM67):c.300C>A (p.Cys100Ter)	91147	TMEM67	Pathogenic	751309268	RCV000201716;	N	MedGen:C1853153,OMIM:610688	8	94768082	94768082	NM_153704.5:c.300C>A	NP_714915.3:p.Cys100Ter	NC_000008.10:g.94768082C>A	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.389C>G (p.Pro130Arg)	91147	TMEM67	Pathogenic	863225226	RCV000201664;	N	MedGen:C1853153,OMIM:610688	8	94770787	94770787	NM_153704.5:c.389C>G	NP_714915.3:p.Pro130Arg	NC_000008.10:g.94770787C>G	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.515G>A (p.Arg172Gln)	91147	TMEM67	Pathogenic	750950408	RCV000201683;	N	MedGen:C1853153,OMIM:610688	8	94777642	94777642	NM_153704.5:c.515G>A	NP_714915.3:p.Arg172Gln	NC_000008.10:g.94777642G>A	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs)	91147	TMEM67	Likely pathogenic;Pathogenic	386834202	RCV000050196; RCV000194151;	N	MedGen:C1846357,OMIM:607361; MedGen:C1853153,OMIM:610688	8	94777802	94777803	NM_153704.5:c.579_580delAG	NP_714915.3:p.Gly195Ilefs	NC_000008.10:g.94777802_94777803delAG	-	C1853153 610688 Joubert syndrome 6; C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter)	91147	TMEM67	Pathogenic	137853108	RCV000001442; RCV000001443;	N	MedGen:C1846357,OMIM:607361; MedGen:C1853153,OMIM:610688	8	94777845	94777845	NM_153704.5:c.622A>T	NP_714915.3:p.Arg208Ter	NC_000008.10:g.94777845A>T	OMIM Allelic Variant:609884.0011	C1853153 610688 Joubert syndrome 6; C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.651+2T>G	91147	TMEM67	Likely pathogenic;Pathogenic	199821258	RCV000050199; RCV000001439;	N	MedGen:C1846357,OMIM:607361; MedGen:C1853153,OMIM:610688	8	94777876	94777876	NM_153704.5:c.651+2T>G		NC_000008.10:g.94777876T>G	OMIM Allelic Variant:609884.0009	C1853153 610688 Joubert syndrome 6; C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter)	91147	TMEM67	Likely pathogenic;Pathogenic	386834205	RCV000050200; RCV000201769;	N	MedGen:C1846357,OMIM:607361; MedGen:C1853153,OMIM:610688	8	94784840	94784840	NM_153704.5:c.675G>A	NP_714915.3:p.Trp225Ter	NC_000008.10:g.94784840G>A	-	C1853153 610688 Joubert syndrome 6; C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser)	91147	TMEM67	Pathogenic;Uncertain significance	775883520	RCV000201726; RCV000198666;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1853153,OMIM:610688	8	94792831	94792831	NM_153704.5:c.725A>G	NP_714915.3:p.Asn242Ser	NC_000008.10:g.94792831A>G	-	C0431399 213300 Familial aplasia of the vermis; C1853153 610688 Joubert syndrome 6; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.730A>G (p.Thr244Ala)	91147	TMEM67	Pathogenic	863225229	RCV000201733;	N	MedGen:C1853153,OMIM:610688	8	94792836	94792836	NM_153704.5:c.730A>G	NP_714915.3:p.Thr244Ala	NC_000008.10:g.94792836A>G	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.755T>C (p.Met252Thr)	91147	TMEM67	Pathogenic	202149403	RCV000001457;	N	MedGen:C1853153,OMIM:610688	8	94792861	94792861	NM_153704.5:c.755T>C	NP_714915.3:p.Met252Thr	NC_000008.10:g.94792861T>C	OMIM Allelic Variant:609884.0023	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.769A>G (p.Met257Val)	91147	TMEM67	Pathogenic	863225227	RCV000201614;	N	MedGen:C1853153,OMIM:610688	8	94792875	94792875	NM_153704.5:c.769A>G	NP_714915.3:p.Met257Val	NC_000008.10:g.94792875A>G	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.978+3A>G	91147	TMEM67	Pathogenic	775256658	RCV000201705;	N	MedGen:C1853153,OMIM:610688	8	94793213	94793213	NM_153704.5:c.978+3A>G		NC_000008.10:g.94793213A>G	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser)	91147	TMEM67	Likely pathogenic;Pathogenic	386834180	RCV000050175; RCV000201777; RCV000114240;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C1846357,OMIM:607361; MedGen:C1853153,OMIM:610688	8	94793953	94793953	NM_153704.5:c.1046T>C	NP_714915.3:p.Leu349Ser	NC_000008.10:g.94793953T>C	-	C1853153 610688 Joubert syndrome 6; C1846357 607361 Meckel syndrome type 3; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.1073C>T (p.Pro358Leu)	91147	TMEM67	Pathogenic	863225232	RCV000201590;	N	MedGen:C1853153,OMIM:610688	8	94794630	94794630	NM_153704.5:c.1073C>T	NP_714915.3:p.Pro358Leu	NC_000008.10:g.94794630C>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1081G>T (p.Glu361Ter)	91147	TMEM67	Pathogenic	863225237	RCV000201527;	N	MedGen:C1853153,OMIM:610688	8	94794638	94794638	NM_153704.5:c.1081G>T	NP_714915.3:p.Glu361Ter	NC_000008.10:g.94794638G>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys)	91147	TMEM67	Pathogenic	863225235	RCV000201528;	N	MedGen:C1853153,OMIM:610688	8	94794672	94794672	NM_153704.5:c.1115C>A	NP_714915.3:p.Thr372Lys	NC_000008.10:g.94794672C>A	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1126C>G (p.Gln376Glu)	91147	TMEM67	Pathogenic	863225231	RCV000201732;	N	MedGen:C1853153,OMIM:610688	8	94794683	94794683	NM_153704.5:c.1126C>G	NP_714915.3:p.Gln376Glu	NC_000008.10:g.94794683C>G	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys)	91147	TMEM67	Pathogenic	752362727	RCV000201784;	N	MedGen:C1853153,OMIM:610688	8	94798483	94798483	NM_153704.5:c.1321C>T	NP_714915.3:p.Arg441Cys	NC_000008.10:g.94798483C>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1351C>T (p.Arg451Ter)	91147	TMEM67	Pathogenic	116647652	RCV000201701;	N	MedGen:C1853153,OMIM:610688	8	94798513	94798513	NM_153704.5:c.1351C>T	NP_714915.3:p.Arg451Ter	NC_000008.10:g.94798513C>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1453C>T (p.Pro485Ser)	91147	TMEM67	Pathogenic	863225228	RCV000201544;	N	MedGen:C1853153,OMIM:610688	8	94800112	94800112	NM_153704.5:c.1453C>T	NP_714915.3:p.Pro485Ser	NC_000008.10:g.94800112C>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys)	91147	TMEM67	Pathogenic	137853107	RCV000001437; RCV000001436;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94803510	94803510	NM_153704.5:c.1538A>G	NP_714915.3:p.Tyr513Cys	NC_000008.10:g.94803510A>G	OMIM Allelic Variant:609884.0006	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_001142301.1(TMEM67):c.1391G>A (p.Gly464Glu)	91147	TMEM67	Pathogenic	267607114	RCV000001440;	N	MedGen:C1853153,OMIM:610688	8	94805484	94805484	NM_001142301.1:c.1391G>A	NP_001135773.1:p.Gly464Glu	NC_000008.10:g.94805484G>A	OMIM Allelic Variant:609884.0010	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1674+3A>G	91147	TMEM67	Pathogenic	863225224	RCV000201579;	N	MedGen:C1853153,OMIM:610688	8	94805527	94805527	NM_153704.5:c.1674+3A>G		NC_000008.10:g.94805527A>G	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser)	91147	TMEM67	Pathogenic	267607115	RCV000001449; RCV000201677;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94807731	94807731	NM_153704.5:c.1769T>C	NP_714915.3:p.Phe590Ser	NC_000008.10:g.94807731T>C	OMIM Allelic Variant:609884.0016	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg)	91147	TMEM67	Pathogenic	201893408	RCV000001452; RCV000001451;	N	MedGen:C1853153,OMIM:610688; MedGen:C3150796,OMIM:613550,ORPHA:84081	8	94808198	94808198	NM_153704.5:c.1843T>C	NP_714915.3:p.Cys615Arg	NC_000008.10:g.94808198T>C	OMIM Allelic Variant:609884.0019	C1853153 610688 Joubert syndrome 6; C3150796 613550 Nephronophthisis 11
NM_153704.5(TMEM67):c.1911C>A (p.Phe637Leu)	91147	TMEM67	Pathogenic	863225225	RCV000201665;	N	MedGen:C1853153,OMIM:610688	8	94809412	94809412	NM_153704.5:c.1911C>A	NP_714915.3:p.Phe637Leu	NC_000008.10:g.94809412C>A	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1961-2A>C	91147	TMEM67	Pathogenic	758948621	RCV000001441; RCV000201576;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94809557	94809557	NM_153704.5:c.1961-2A>C		NC_000008.10:g.94809557A>C	OMIM Allelic Variant:609884.0017	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2086C>T (p.Leu696Phe)	91147	TMEM67	Likely pathogenic	863225238	RCV000201654;	N	MedGen:C1853153,OMIM:610688	8	94809684	94809684	NM_153704.5:c.2086C>T	NP_714915.3:p.Leu696Phe	NC_000008.10:g.94809684C>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2290C>T (p.Arg764Ter)	91147	TMEM67	Pathogenic	751517725	RCV000201592;	N	MedGen:C1853153,OMIM:610688	8	94815880	94815880	NM_153704.5:c.2290C>T	NP_714915.3:p.Arg764Ter	NC_000008.10:g.94815880C>T	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2315_2322+5del13insGG	91147	TMEM67	Pathogenic	-1	RCV000001433;	N	MedGen:C1853153,OMIM:610688	8	94815905	94815917	NM_153704.5:c.2315_2322+5del13insGG			OMIM Allelic Variant:609884.0007	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2322+2dupT	91147	TMEM67	Likely pathogenic;Uncertain significance	386834192	RCV000050186; RCV000201707; RCV000176336;	N	MedGen:C1846357,OMIM:607361; MedGen:C1853153,OMIM:610688; MedGen:CN221809	8	94815914	94815914	NM_153704.5:c.2322+2dupT		NC_000008.10:g.94815914dupT	-	C1853153 610688 Joubert syndrome 6; C1846357 607361 Meckel syndrome type 3; CN221809 not provided
NM_153704.5(TMEM67):c.2322+5delG	91147	TMEM67	Likely pathogenic	863225240	RCV000201630;	N	MedGen:C1853153,OMIM:610688	8	94815917	94815917	NM_153704.5:c.2322+5delG		NC_000008.10:g.94815917delG	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2368C>A (p.His790Asn)	91147	TMEM67	Pathogenic	863225230	RCV000201638;	N	MedGen:C1853153,OMIM:610688	8	94817035	94817035	NM_153704.5:c.2368C>A	NP_714915.3:p.His790Asn	NC_000008.10:g.94817035C>A	-	C1853153 610688 Joubert syndrome 6
NM_001142301.1(TMEM67):c.2218G>C (p.Gly740Arg)	91147	TMEM67	Pathogenic	267607116	RCV000001455; RCV000001454;	N	MedGen:C1853153,OMIM:610688; MedGen:C3150796,OMIM:613550,ORPHA:84081	8	94821089	94821089	NM_001142301.1:c.2218G>C	NP_001135773.1:p.Gly740Arg	NC_000008.10:g.94821089G>A,NC_000008.10:g.94821089G>C	OMIM Allelic Variant:609884.0021	C1853153 610688 Joubert syndrome 6; C3150796 613550 Nephronophthisis 11
NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr)	91147	TMEM67	Pathogenic	267607119	RCV000001445; RCV000001446;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94821126	94821126	NM_153704.5:c.2498T>C	NP_714915.3:p.Ile833Thr	NC_000008.10:g.94821126T>C	OMIM Allelic Variant:609884.0013	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2522A>C (p.Gln841Pro)	91147	TMEM67	Pathogenic	863225234	RCV000201610;	N	MedGen:C1853153,OMIM:610688	8	94821150	94821150	NM_153704.5:c.2522A>C	NP_714915.3:p.Gln841Pro	NC_000008.10:g.94821150A>C	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2556+1G>T	91147	TMEM67	Pathogenic	786200867	RCV000001447; RCV000201565;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94821185	94821185	NM_153704.5:c.2556+1G>T		NC_000008.10:g.94821185G>T	OMIM Allelic Variant:609884.0014	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2661+5G>A	91147	TMEM67	Likely pathogenic	863225239	RCV000201535;	N	MedGen:C1853153,OMIM:610688	8	94821394	94821394	NM_153704.5:c.2661+5G>A		NC_000008.10:g.94821394G>A	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2801G>A (p.Gly934Glu)	91147	TMEM67	Pathogenic	863225236	RCV000201657;	N	MedGen:C1853153,OMIM:610688	8	94827569	94827569	NM_153704.5:c.2801G>A	NP_714915.3:p.Gly934Glu	NC_000008.10:g.94827569G>A	-	C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2825T>G (p.Phe942Cys)	91147	TMEM67	Pathogenic	863225233	RCV000201774;	N	MedGen:C1853153,OMIM:610688	8	94827593	94827593	NM_153704.5:c.2825T>G	NP_714915.3:p.Phe942Cys	NC_000008.10:g.94827593T>G	-	C1853153 610688 Joubert syndrome 6