Palmoplantar keratodermas
Gene: CAST
CAST (calpastatin)
EnsemblGeneIds (GRCh38): ENSG00000153113
EnsemblGeneIds (GRCh37): ENSG00000153113
OMIM: 114090, Gene2Phenotype
CAST is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000153113
EnsemblGeneIds (GRCh37): ENSG00000153113
OMIM: 114090, Gene2Phenotype
CAST is in 5 panels
1 review
Rebecca Foulger (Genomics England curator)
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: CAST; 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
-
- Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
- OMIM
- 114090
- Clinvar variants
- Variants in CAST
- 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 CAST.
28 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: CAST was added gene: CAST was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads