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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: Ciliary Motility Disorders (D002925)
Parent Node: Encephalocele (D004677)
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Meckel syndrome type 3 (C536132)
Child Nodes:
Sister Nodes:
..Arima syndrome (C537430)
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Daneman Davy Mancer syndrome (C535986)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Polycystic kidney disease, type 1 (C536326)
..Polycystic Kidney, Autosomal Dominant (D016891) 3
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Potter Type III Polycystic Kidney Disease (C566792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6863

Name:

Meckel syndrome type 3

Definition:

Alternative IDs:

OMIM:607361

ParentIDs:

MESH:D002925|MESH:D004677|MESH:D007690

TreeNumbers:

C08.200/C536132 |C09.150/C536132 |C10.500.680.488/C536132 |C12.777.419.403.875/C536132 |C13.351.968.419.403.875/C536132 |C16.131.666.680.488/C536132 |C23.300.707.186/C536132

Synonyms:

Meckel-Gruber Syndrome, Type 3 |Meckel Syndrome, Type 3 |MKS3

Slim Mappings:

Reference:

MedGen: C536132
MeSH: C536132
OMIM: 607361;

Genes: TMEM67;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001408	Bile duct proliferation
3	HP:0000175	Cleft palate	HP:0040283
4	HP:0001305	Dandy-Walker malformation	HP:0040283
5	HP:0002084	Encephalocele
6	HP:0001395	Hepatic fibrosis
7	HP:0000238	Hydrocephalus	HP:0040283
8	HP:0000003	Multicystic kidney dysplasia
9	HP:0001162	Postaxial hand polydactyly

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.161A>G (p.Tyr54Cys)	91147	TMEM67	Likely pathogenic	386834188	RCV000050182;	N	MedGen:C1846357,OMIM:607361	8	94767303	94767303	NM_153704.5:c.161A>G	NP_714915.3:p.Tyr54Cys	NC_000008.10:g.94767303A>G	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.224-2delA	91147	TMEM67	Likely pathogenic	386834190	RCV000050184;	N	MedGen:C1846357,OMIM:607361	8	94768004	94768004	NM_153704.5:c.224-2delA		NC_000008.10:g.94768004delA	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.383_384delAC (p.His128Leufs)	91147	TMEM67	Likely pathogenic;Pathogenic	386834200	RCV000001430;	N	MedGen:C1846357,OMIM:607361	8	94770781	94770782	NM_153704.5:c.383_384delAC	NP_714915.3:p.His128Leufs	NC_000008.10:g.94770781_94770782delAC	OMIM Allelic Variant:609884.0001	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.387T>A (p.Cys129Ter)	91147	TMEM67	Likely pathogenic	386834201	RCV000050195;	N	MedGen:C1846357,OMIM:607361	8	94770785	94770785	NM_153704.5:c.387T>A	NP_714915.3:p.Cys129Ter	NC_000008.10:g.94770785T>A	-	C1846357 607361 Meckel syndrome type 3
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.579delA (p.Gly195Aspfs)	91147	TMEM67	Likely pathogenic	386834203	RCV000050197;	N	MedGen:C1846357,OMIM:607361	8	94777802	94777802	NM_153704.5:c.579delA	NP_714915.3:p.Gly195Aspfs	NC_000008.10:g.94777802delA	-	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.648delA (p.Val217Leufs)	91147	TMEM67	Likely pathogenic;Pathogenic	386834204	RCV000001431;	N	MedGen:C1846357,OMIM:607361	8	94777871	94777871	NM_153704.5:c.648delA	NP_714915.3:p.Val217Leufs	NC_000008.10:g.94777871delA	OMIM Allelic Variant:609884.0002	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.734C>T (p.Ser245Phe)	91147	TMEM67	Likely pathogenic	386834206	RCV000050201;	N	MedGen:C1846357,OMIM:607361	8	94792840	94792840	NM_153704.5:c.734C>T	NP_714915.3:p.Ser245Phe	NC_000008.10:g.94792840C>T	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.870-2A>G	91147	TMEM67	Likely pathogenic;Pathogenic	386834207	RCV000001432;	N	MedGen:C1846357,OMIM:607361	8	94793100	94793100	NM_153704.5:c.870-2A>G		NC_000008.10:g.94793100A>G	OMIM Allelic Variant:609884.0003	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.888G>T (p.Trp296Cys)	91147	TMEM67	Likely pathogenic	386834208	RCV000050202;	N	MedGen:C1846357,OMIM:607361	8	94793120	94793120	NM_153704.5:c.888G>T	NP_714915.3:p.Trp296Cys	NC_000008.10:g.94793120G>T	-	C1846357 607361 Meckel syndrome type 3
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.1065+1delG	91147	TMEM67	Likely pathogenic	386834181	RCV000050176;	N	MedGen:C1846357,OMIM:607361	8	94793973	94793973	NM_153704.5:c.1065+1delG		NC_000008.10:g.94793973delG	-	C1846357 607361 Meckel syndrome type 3
NM_001142301.1(TMEM67):c.884A>C (p.Gln295Pro)	91147	TMEM67	Pathogenic	137853106	RCV000001434;	N	MedGen:C1846357,OMIM:607361	8	94794684	94794684	NM_001142301.1:c.884A>C	NP_001135773.1:p.Gln295Pro	NC_000008.10:g.94794684A>C	OMIM Allelic Variant:609884.0004	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.1319G>A (p.Arg440Gln)	91147	TMEM67	Likely pathogenic	386834182	RCV000050177;	N	MedGen:C1846357,OMIM:607361	8	94798481	94798481	NM_153704.5:c.1319G>A	NP_714915.3:p.Arg440Gln	NC_000008.10:g.94798481G>A	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.1322G>T (p.Arg441Leu)	91147	TMEM67	Likely pathogenic	386834183	RCV000050178;	N	MedGen:C1846357,OMIM:607361	8	94798484	94798484	NM_153704.5:c.1322G>T	NP_714915.3:p.Arg441Leu	NC_000008.10:g.94798484G>T	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.1336G>C (p.Asp446His)	91147	TMEM67	Likely pathogenic	386834184	RCV000050179;	N	MedGen:C1846357,OMIM:607361	8	94798498	94798498	NM_153704.5:c.1336G>C	NP_714915.3:p.Asp446His	NC_000008.10:g.94798498G>C	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.1413-1G>C	91147	TMEM67	Likely pathogenic	386834185	RCV000050180;	N	MedGen:C1846357,OMIM:607361	8	94800071	94800071	NM_153704.5:c.1413-1G>C		NC_000008.10:g.94800071G>C	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.1538_1539delAT (p.Tyr513Terfs)	91147	TMEM67	Likely pathogenic	386834186	RCV000050181;	N	MedGen:C1846357,OMIM:607361	8	94803510	94803511	NM_153704.5:c.1538_1539delAT	NP_714915.3:p.Tyr513Terfs	NC_000008.10:g.94803510_94803511delAT	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.1575+1G>A	91147	TMEM67	Likely pathogenic;Pathogenic	386834187	RCV000001435;	N	MedGen:C1846357,OMIM:607361	8	94803548	94803548	NM_153704.5:c.1575+1G>A		NC_000008.10:g.94803548G>A	OMIM Allelic Variant:609884.0005	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2002T>C (p.Trp668Arg)	91147	TMEM67	Likely pathogenic	386834189	RCV000050183;	N	MedGen:C1846357,OMIM:607361	8	94809600	94809600	NM_153704.5:c.2002T>C	NP_714915.3:p.Trp668Arg	NC_000008.10:g.94809600T>C	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2301delT (p.Asp768Ilefs)	91147	TMEM67	Likely pathogenic	386834191	RCV000050185;	N	MedGen:C1846357,OMIM:607361	8	94815891	94815891	NM_153704.5:c.2301delT	NP_714915.3:p.Asp768Ilefs	NC_000008.10:g.94815891delT	-	C1846357 607361 Meckel syndrome type 3
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.2357G>A (p.Gly786Glu)	91147	TMEM67	Likely pathogenic	386834193	RCV000050187;	N	MedGen:C1846357,OMIM:607361	8	94817024	94817024	NM_153704.5:c.2357G>A	NP_714915.3:p.Gly786Glu	NC_000008.10:g.94817024G>A	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2528A>G (p.Tyr843Cys)	91147	TMEM67	Likely pathogenic	386834194	RCV000050188;	N	MedGen:C1846357,OMIM:607361	8	94821156	94821156	NM_153704.5:c.2528A>G	NP_714915.3:p.Tyr843Cys	NC_000008.10:g.94821156A>G	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2542G>T (p.Glu848Ter)	91147	TMEM67	Likely pathogenic	386834195	RCV000050189;	N	MedGen:C1846357,OMIM:607361	8	94821170	94821170	NM_153704.5:c.2542G>T	NP_714915.3:p.Glu848Ter	NC_000008.10:g.94821170G>T	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2557A>T (p.Lys853Ter)	91147	TMEM67	Likely pathogenic	386834196	RCV000050190;	N	MedGen:C1846357,OMIM:607361	8	94821285	94821285	NM_153704.5:c.2557A>T	NP_714915.3:p.Lys853Ter	NC_000008.10:g.94821285A>T	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2561dupA (p.Asn854Lysfs)	91147	TMEM67	Likely pathogenic	386834197	RCV000050191;	N	MedGen:C1846357,OMIM:607361	8	94821289	94821289	NM_153704.5:c.2561dupA	NP_714915.3:p.Asn854Lysfs	NC_000008.10:g.94821289dupA	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2689_2690insTA (p.Lys897Ilefs)	91147	TMEM67	Likely pathogenic	386834198	RCV000050192;	N	MedGen:C1846357,OMIM:607361	8	94822040	94822041	NM_153704.5:c.2689_2690insTA	NP_714915.3:p.Lys897Ilefs	NC_000008.10:g.94822040_94822041insTA	-	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2754_2756delCTT (p.Phe919del)	91147	TMEM67	Pathogenic	786205126	RCV000049341;	N	MedGen:C1846357,OMIM:607361	8	94822105	94822107	NM_153704.5:c.2754_2756delCTT	NP_714915.3:p.Phe919del	NC_000008.10:g.94822105_94822107delCTT	OMIM Allelic Variant:609884.0025	C1846357 607361 Meckel syndrome type 3
NM_153704.5(TMEM67):c.2897T>C (p.Leu966Pro)	91147	TMEM67	Likely pathogenic	386834199	RCV000050193;	N	MedGen:C1846357,OMIM:607361	8	94827665	94827665	NM_153704.5:c.2897T>C	NP_714915.3:p.Leu966Pro	NC_000008.10:g.94827665T>C	-	C1846357 607361 Meckel syndrome type 3