DDG2P
Gene: MAF

MAF (MAF bZIP transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000178573
EnsemblGeneIds (GRCh37): ENSG00000178573
OMIM: 177075, Gene2Phenotype
MAF is in 8 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MAF-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 11772997, 16470690, 24664492, 29314435, 30659945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01427. The DDG2P confidence category, allelic requirement and molecular mechanism for MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation are definitive, monoallelic_autosomal and undetermined (PMID:25865493). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01853.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease MAF-related cataract, OMIM:610202 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 29314435;30659945;11772997;24664492;16470690). The DDG2P confidence category for the disease MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 25865493).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

The DDG2P confidence category for the disease CATARACT 21, MULTIPLE TYPES, OMIM:610202 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 11772997;24664492;16470690).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MAF-related cataract; MONDO:0012437; OMIM:610202.0; MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation; OMIM:601088.0; MONDO:0010992; MAF-related cataract, OMIM:610202; MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Comment on phenotypes: Updated phenotype from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to: Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to reflect DD-G2P update. Rating remains as: confirmed. MOI remains as: monoallelic. MOP remains as: all missense/in frame.
Created: 8 Jan 2019, 8:45 a.m.

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, uncertain.
Created: 19 Nov 2018, 11:30 a.m.

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

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

OMIM

177075

Clinvar variants

Variants in MAF

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MAF was changed from Other to None

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MAF were changed from 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 to MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088; MAF-related cataract, OMIM:610202

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: MAF were set to 11772997; 24664492; 16470690

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene MAF was changed from Other - please provide details in the comments to Other Publications for gene: MAF were updated from 16470690; 11772997 to 11772997; 24664492; 16470690

29 Jan 2019, Gel status: 4