Bilateral congenital or childhood onset cataracts
Gene: MAF
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract, pulverulent or cerulean, with or without microcornea, 610202
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, CATARACT CONGENITAL CERULEAN TYPE 4, and CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM). Associated with Ayme-Gripp syndrome and Cataract 21, multiple types in OMIM.Created: 25 Apr 2016, 9:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM); Ayme-Gripp syndrome; Cataract 21, multiple types; Cataract pulverulent or cerulean with or without microcornea
This gene has been classified as Green List (High Evidence).
Phenotypes for MAF were set to Cataract, pulverulent or cerulean, with or without microcornea, 610202; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM); Ayme-Gripp syndrome; Cataract 21, multiple types; Cataract pulverulent or cerulean with or without microcornea
Mode of inheritance for MAF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
MAF was added to Cataractspanel. Sources: UKGTN
MAF was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen