Genomics England
GMS Panels
Panels
Genes and Entities

MAF

MAF bZIP transcription factor
OMIM: 177075
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.6
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 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088, MAF-related cataract, OMIM:610202
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.54
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ayme-Gripp syndrome 601088
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 21, multiple types 610202