Congenital nystagmus
Gene: TRPM1
TRPM1 (transient receptor potential cation channel subfamily M member 1)
EnsemblGeneIds (GRCh38): ENSG00000134160
EnsemblGeneIds (GRCh37): ENSG00000134160
OMIM: 603576, Gene2Phenotype
TRPM1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000134160
EnsemblGeneIds (GRCh37): ENSG00000134160
OMIM: 603576, Gene2Phenotype
TRPM1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, nystagmus is a feature.Created: 25 Oct 2021, 4:58 a.m. | Last Modified: 25 Oct 2021, 4:58 a.m.
Panel Version: 0.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216
Publications
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
- Publications
- Panels with this gene
History Filter Activity
25 Oct 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trpm1 has been classified as Green List (High Evidence).
25 Oct 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TRPM1 were set to
6 Oct 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TRPM1 was added gene: TRPM1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital 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