Congenital Stationary Night Blindness

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 3 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
OMIM
603576
Clinvar variants
Variants in TRPM1
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TRPM1 was added gene: TRPM1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRPM1 were set to Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216