Retinal disorders
Gene: MAK

MAK (male germ cell associated kinase)
EnsemblGeneIds (GRCh38): ENSG00000111837
EnsemblGeneIds (GRCh37): ENSG00000111837
OMIM: 154235, Gene2Phenotype
MAK is in 3 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen Thomas (Genomics England Curator)

Comment on list classification: Sufficient evidence for inclusion; need to resolve technical questions separately.
Created: 7 Jun 2016, noon

Created: 7 Jun 2016, noon

Panel version: 0.217

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Seems to be a clear association with retininis pigmentosa in multiple families for different genetic variants.
Created: 2 Jun 2016, 11:32 a.m.

This gene was removed from the Manchester Genetic Retinal Degeneration Conditions panel due to technical/alignment issues.
Created: 2 Jun 2016, 8:04 a.m.

Created: 2 Jun 2016, 8:04 a.m.

Panel version: 0.201

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Eye Disorders
Retinitis pigmentosa 62, 614181
Retinitis pigmentosa
Retinitis Pigmentosa, Recessive

OMIM

154235

Clinvar variants

Variants in MAK

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAK. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

2 Jun 2016, Gel status: 2