Structural eye disease
Gene: TMEM67EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Brancati: four families with coloboma; Brooks: 10+ families with coloboma (most of TMEM67 cases)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11; {Bardet-Biedl syndrome 14, modifer of}; 216360; 610688; 607361; 613550; 615991
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Brancati: four families with coloboma; Brooks: 10+ families with coloboma (most of TMEM67 cases)Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360; Joubert syndrome 6, 610688; Meckel syndrome 3, 607361; Nephronophthisis 11, 613550; {Bardet-Biedl syndrome 14, modifer of}, 615991
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- COACH syndrome, 216360
- Joubert syndrome 6, 610688
- {Bardet-Biedl syndrome 14, modifer of}, 615991
- Meckel syndrome 3, 607361
- COACH syndrome, 216360
- Nephronophthisis 11, 613550
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Ocular coloboma
- Retinal disorders
- Familial Neural Tube Defects
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TMEM67 were changed from COACH syndrome, 216360; Joubert syndrome 6, 610688; Joubert syndrome 6; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550 to COACH syndrome, 216360; Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550
Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TMEM67. Source Expert Review Green was added to TMEM67. Added phenotypes Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; COACH syndrome, 216360; Meckel syndrome 3, 607361; Nephronophthisis 11, 613550 for gene: TMEM67 Publications for gene TMEM67 were changed from 19058225 to 30055837; 19058225 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TMEM67 was added gene: TMEM67 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 19058225 Phenotypes for gene: TMEM67 were set to COACH syndrome, 216360; Joubert syndrome 6