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  2. Corneal Dystrophy
  3. MAF
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Corneal Dystrophy

Gene: MAF

Red List (low evidence)
MAF (MAF bZIP transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000178573
EnsemblGeneIds (GRCh37): ENSG00000178573
OMIM: 177075, Gene2Phenotype
MAF is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene-disease association is with cataract/occasional microcornea rather than corneal dystrophy.
Created: 27 Jul 2020, 8:40 a.m. | Last Modified: 27 Jul 2020, 8:40 a.m.
Panel Version: 0.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 21, multiple types, MIM# 610202

Created: 27 Jul 2020, 8:40 a.m.
Last Modified: 27 Jul 2020, 8:40 a.m.
Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 21, multiple types, MIM# 610202
OMIM
177075
Clinvar variants
Variants in MAF
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: maf has been classified as Red List (Low Evidence).

27 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAF were changed from to Cataract 21, multiple types, MIM# 610202

27 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: maf has been classified as Red List (Low Evidence).

27 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: maf has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAF was added gene: MAF was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAF was set to Unknown