Structural eye disease
Gene: MERTK

MERTK (MER proto-oncogene, tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000153208
EnsemblGeneIds (GRCh37): ENSG00000153208
OMIM: 604705, Gene2Phenotype
MERTK 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 38; 613862

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 38, 613862

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 38, 613862
Eye Disorders

OMIM

604705

Clinvar variants

Variants in MERTK

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 MERTK. Mode of inheritance for gene MERTK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 38, 613862 for gene: MERTK

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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

Structural eye disease Gene: MERTK