MAF

MAF bZIP transcription factor
OMIM: 177075
PanelMode of inheritanceDetails
6 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202, CATARACT CONGENITAL CERULEAN TYPE 4 610202
R-numbers: R21
Signed-off version 1.92
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
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ayme-Gripp syndrome 601088
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 21, multiple types 610202