Glaucoma (developmental)

Gene: TMEM67

Green List (high evidence)

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

• 19058225, 30055837

Green List (high evidence)

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

• 19058225
• 30055837

Variants in this GENE are reported as part of current diagnostic practice