1. Panels
  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. TRPM4
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: TRPM4

Red List (low evidence)
TRPM4 (transient receptor potential cation channel subfamily M member 4)
EnsemblGeneIds (GRCh38): ENSG00000130529
EnsemblGeneIds (GRCh37): ENSG00000130529
OMIM: 606936, Gene2Phenotype
TRPM4 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two unrelated families reported with missense variants.
Sources: Expert Review
Created: 7 Apr 2022, 8:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Erythrokeratodermia variabilis et progressiva 6, MIM# 618531

Publications

Created: 7 Apr 2022, 8:28 a.m.

Panel version: 0.112

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
OMIM
606936
Clinvar variants
Variants in TRPM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpm4 has been classified as Red List (Low Evidence).

7 Apr 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPM4 was added gene: TRPM4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM4 were set to 30528822 Phenotypes for gene: TRPM4 were set to Erythrokeratodermia variabilis et progressiva 6, MIM# 618531 Review for gene: TRPM4 was set to RED