Ichthyosis
Gene: CASP14EnsemblGeneIds (GRCh38): ENSG00000105141
EnsemblGeneIds (GRCh37): ENSG00000105141
OMIM: 605848, Gene2Phenotype
CASP14 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features.
Sources: Expert listCreated: 31 Jan 2020, 12:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 12 MIM#617320
- OMIM
- 605848
- Clinvar variants
- Variants in CASP14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casp14 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casp14 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casp14 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CASP14 was added gene: CASP14 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP14 were set to 27494380; 23014340; 17515931 Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320 Review for gene: CASP14 was set to AMBER