Corneal abnormalities

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

Chris Campbell (GEL)

Feedback from Manchester Centre for Genomic Medicine; Sufficient evidence to go in corneal abnormalities panel.Gene associated with cataract-microcornea syndrome
Created: 3 Mar 2017, 9:56 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and awaiting final review decision. Always associated with cataract, reported with/without microcornea.
Created: 22 Feb 2017, 10:37 a.m.

Details

Mode of Inheritance
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
OMIM
177075
Clinvar variants
Variants in MAF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

2 Mar 2017, Gel status: 4

Set Mode of Inheritance

Chris Campbell (GEL)

Mode of inheritance for MAF was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Set Phenotypes

Chris Campbell (GEL)

Phenotypes for MAF were set to Cataract, pulverulent or cerulean, with or without microcornea, 610202; Cataract 21, multiple types 610202

2 Mar 2017, Gel status: 4

Set publications

Chris Campbell (GEL)

Publications for MAF were set to 11772997; 17982426

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MAF was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen