Structural eye disease
Gene: MAF
Jamieson: one family; Hansen, three families. Missense variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 21, multiple types 610202
Publications
Mode of pathogenicity
Other - please provide details in the comments
Promoted from amber to green as there is sufficient evidence.Created: 24 Apr 2019, 2:36 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Jamieson: one family; Hansen, three families. Missense variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 21, multiple types 610202
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to MAF. Source Expert Review Green was added to MAF. Mode of pathogenicity for gene MAF was changed from to Other - please provide details in the comments Added phenotypes Cataract 21, multiple types 610202 for gene: MAF Publications for gene MAF were changed from 11772997 to 12642301; 17982426 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: MAF was added gene: MAF was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAF were set to 11772997 Phenotypes for gene: MAF were set to Cataract 21, multiple types 610202