MAF

MAF bZIP transcription factor
OMIM: 177075, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MAF in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.14 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen 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 MAF in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cataract, pulverulent or cerulean, with or without microcornea, 610202 Cataract 21, multiple types 610202
Amber MAF in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.47	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen UKGTN Literature Phenotypes Cataract 21, multiple types 610202
Green MAF in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES CATARACT CONGENITAL CERULEAN TYPE 4 CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED
Green MAF in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green 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 MAF in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Ayme-Gripp syndrome 601088
Green MAF in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Green MAF in Structural eye disease Version 3.79 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cataract 21, multiple types 610202
Green MAF in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ayme-Gripp syndrome, 601088 Cataract 21, multiple types, 610202