Palmoplantar keratodermas

Gene: CASP14

Green List (high evidence)

CASP14 (caspase 14)
EnsemblGeneIds (GRCh38): ENSG00000105141
EnsemblGeneIds (GRCh37): ENSG00000105141
OMIM: 605848, Gene2Phenotype
CASP14 is in 1 panel

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

2 apparently unrelated Algerian families with the same variant and same haplotype reported, so gene-disease association is already not well-established. Patients had ichthyosis but not PPK. PPK is specifically reported NOT present in one patient.
Created: 19 Aug 2020, 6:31 a.m. | Last Modified: 19 Aug 2020, 6:31 a.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CASP14; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 12
  • 617320
OMIM
605848
Clinvar variants
Variants in CASP14
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CASP14.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CASP14 was added gene: CASP14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12; 617320