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Retinal disorders

Gene: TRPM1

Green List (high evidence)
TRPM1 (transient receptor potential cation channel subfamily M member 1)
EnsemblGeneIds (GRCh38): ENSG00000134160
EnsemblGeneIds (GRCh37): ENSG00000134160
OMIM: 603576, Gene2Phenotype
TRPM1 is in 6 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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness; congenital stationary; type 1C

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:30 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Rated green by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel: "Causes ON-bipolar cell dysfunction (complete CSNB) - similar phenotype to NYX, GPR179, GRM6 and LRIT3". Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal. Phenotypes: complete congenital stationary night blindness. Publications: 19896113; 19896109; 19878917. Review made: Panel Version: 0, Oct. 19, 2015, 10:31 a.m.
Created: 26 Apr 2016, 12:38 p.m.
Created: 26 Apr 2016, 12:37 p.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
OMIM
603576
Clinvar variants
Variants in TRPM1
Penetrance
Complete
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 TRPM1. Rating Changed from Green List (high evidence) to Green List (high evidence)

23 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPM1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRPM1 was created by ellenmcdonagh