Genomics England

MAF

MAF bZIP transcription factor

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	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 4.3	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
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 5.10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Ayme-Gripp syndrome 601088
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 6.13	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 3.79	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cataract 21, multiple types 610202