1. Genes and Genomic Entities
  2. TRPM1

TRPM1

transient receptor potential cation channel subfamily M member 1
OMIM: 603576, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red TRPM1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red TRPM1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red TRPM1 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Green TRPM1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216
    Red TRPM1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Night blindness, congenital stationary (complete), 1C, autosomal
    • recessive, 613216
    Green TRPM1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    		review 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
    Red TRPM1 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
    • Eye Disorders
    Green TRPM1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216