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  3. MAF
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Structural eye disease

Gene: MAF

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Jamieson: one family; Hansen, three families. Missense variants have been reported
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 21, multiple types 610202

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Promoted from amber to green as there is sufficient evidence.
Created: 24 Apr 2019, 2:36 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Jamieson: one family; Hansen, three families. Missense variants have been reported
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 21, multiple types 610202

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.71

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cataract 21, multiple types 610202
OMIM
177075
Clinvar variants
Variants in MAF
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 3

Added New Source, Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAF. Source Expert Review Green was added to MAF. Mode of pathogenicity for gene MAF was changed from to Other - please provide details in the comments Added phenotypes Cataract 21, multiple types 610202 for gene: MAF Publications for gene MAF were changed from 11772997 to 12642301; 17982426 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MAF was added gene: MAF was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAF were set to 11772997 Phenotypes for gene: MAF were set to Cataract 21, multiple types 610202