Epidermolysis bullosa

Gene: CAST

Green List (high evidence)

CAST (calpastatin)
EnsemblGeneIds (GRCh38): ENSG00000153113
EnsemblGeneIds (GRCh37): ENSG00000153113
OMIM: 114090, Gene2Phenotype
CAST is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25683118;

1x Chinese proband from a consanguineous family. She presented with trauma-induced recurrent blistering prominently on the extremities since infancy, which was worse in summer. In winter, asymptomatic skin peeling was more prominent . Homozygous for c.607dup; p.(Ile203Asnfs*8)
-> RT-PCR of mRNA from this patient's skin demonstrated NMD
- 1x Nepalese proband from non-consanguineous parents with history of painful lesions on the palms and soles. Homozygous for c.424A>T ; p.(Lys142*)
- 1x European sibling pair with history of blistering and peeling of skin. Homozygous for c.1750delG p.(*Val584Trpfs*37)
Sources: Literature
Created: 10 Aug 2020, 2:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)
OMIM
114090
Clinvar variants
Variants in CAST
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

10 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cast has been classified as Green List (High Evidence).

10 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cast has been classified as Green List (High Evidence).

10 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CAST was added gene: CAST was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAST were set to 25683118 Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295) Penetrance for gene: CAST were set to unknown Review for gene: CAST was set to GREEN