Structural eye disease
Gene: TMEM67
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
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
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
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)
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