Structural eye disease
Gene: TRPM1

TRPM1 (transient receptor potential cation channel subfamily M member 1)
EnsemblGeneIds (GRCh38): ENSG00000134160
EnsemblGeneIds (GRCh37): ENSG00000134160
OMIM: 603576, Gene2Phenotype
TRPM1 is in 6 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
Night blindness, congenital stationary (complete), 1C, autosomal recessive; 613216

Mode of pathogenicity
other - please provide details in the comments

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
Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216

Mode of pathogenicity
Other - please provide details in the comments

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

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Eye Disorders

OMIM

603576

Clinvar variants

Variants in TRPM1

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 TRPM1. Mode of inheritance for gene TRPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TRPM1 was added gene: TRPM1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TRPM1 was set to Phenotypes for gene: TRPM1 were set to Eye Disorders

Structural eye disease Gene: TRPM1