Structural eye disease
Gene: MAK

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

2 reviews

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

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 62; 614181

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

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 62, 614181

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

Panel version: 0.47

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 62, 614181
Eye Disorders

OMIM

154235

Clinvar variants

Variants in MAK

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAK. Mode of inheritance for gene MAK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 62, 614181 for gene: MAK

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MAK was added gene: MAK was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MAK was set to Phenotypes for gene: MAK were set to Eye Disorders

Structural eye disease Gene: MAK