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  2. Cataract
  3. TRPM3
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Cataract

Gene: TRPM3

Amber List (moderate evidence)
TRPM3 (transient receptor potential cation channel subfamily M member 3)
EnsemblGeneIds (GRCh38): ENSG00000083067
EnsemblGeneIds (GRCh37): ENSG00000083067
OMIM: 608961, Gene2Phenotype
TRPM3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single multi-generational family reported with a missense variant in this gene and cataract. Mouse model of same variant.
Sources: Expert list
Created: 20 Feb 2023, 4:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 50 with or without glaucoma, MIM#620253

Publications

Created: 20 Feb 2023, 4:32 a.m.

Panel version: 0.349

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cataract 50 with or without glaucoma, MIM#620253
OMIM
608961
Clinvar variants
Variants in TRPM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm3 has been classified as Amber List (Moderate Evidence).

20 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm3 has been classified as Amber List (Moderate Evidence).

20 Feb 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPM3 was added gene: TRPM3 was added to Cataract. Sources: Expert list Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM3 were set to 25090642; 33484482 Phenotypes for gene: TRPM3 were set to Cataract 50 with or without glaucoma, MIM#620253 Review for gene: TRPM3 was set to AMBER