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Ocular coloboma

Gene: MAF

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Known to cause congenital cataract and microcornea but coloboma sometimes seen. Recognised as causing coloboma on G2P
Created: 17 Nov 2016, 12:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 21, multiple types 610202

Publications

Created: 17 Nov 2016, 12:15 p.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 21, multiple types 610202
OMIM
177075
Clinvar variants
Variants in MAF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

17 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

MAF was created by agardham

17 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

MAF was added to Ocular colobomapanel. Sources: Literature,Radboud University Medical Center, Nijmegen,UKGTN