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Palmoplantar keratodermas

Gene: CASP14

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 12:38 p.m. | Last Modified: 6 Dec 2024, 12:38 p.m.
Panel Version: 3.27
Created: 6 Dec 2024, 12:38 p.m.
Last Modified: 6 Dec 2024, 12:38 p.m.
Panel version: 3.27

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

One CASP14 variant has been associated with Ichthyosis, congenital, autosomal recessive 12 (OMIM:617320), in two families sharing a haplotype. Palmoplantar keratodermas is not a feature of OMIM:617320
Created: 26 Feb 2024, 1:04 p.m. | Last Modified: 26 Feb 2024, 1:04 p.m.
Panel Version: 3.24
Created: 26 Feb 2024, 1:04 p.m.
Last Modified: 26 Feb 2024, 1:04 p.m.
Panel version: 3.24

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

Created: 19 Aug 2020, 6:31 a.m.
Last Modified: 19 Aug 2020, 6:31 a.m.
Panel version: 1.3

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.
Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

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

History Filter Activity

6 Dec 2024, Gel status: 1

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_demote_red was removed from gene: CASP14. Tag Q1_24_expert_review was removed from gene: CASP14.

6 Dec 2024, Gel status: 1

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to CASP14. Rating Changed from Green List (high evidence) to Red List (low evidence)

26 Feb 2024, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_24_demote_red tag was added to gene: CASP14. Tag Q1_24_expert_review tag was added to gene: CASP14.

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