Rare genetic inflammatory skin disorders

Gene: CSTA

Amber List (moderate evidence)

CSTA (cystatin A)
EnsemblGeneIds (GRCh38): ENSG00000121552
EnsemblGeneIds (GRCh37): ENSG00000121552
OMIM: 184600, Gene2Phenotype
CSTA is in 6 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

Susceptibility to psoriasis / atopic dermatitis - insufficient evidence for inclusion. Peeling skin syndrome - sufficient evidence, but not clinically appropriate for ISD panel? (Gene is green on PPK & EB)
Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome; susceptibility to psoriasis

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: CSTA; 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: 31 Jan 2019, 2:02 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • susceptibility to psoriasis
  • Exfoliative ichthyosis/acral peeling skin syndrome
  • susceptility to atopic dermatitis
OMIM
184600
Clinvar variants
Variants in CSTA
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to CSTA. Added phenotypes susceptibility to psoriasis; Exfoliative ichthyosis/acral peeling skin syndrome; susceptility to atopic dermatitis for gene: CSTA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CSTA.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CSTA was added gene: CSTA was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome; susceptibility to psoriasis