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  3. CSTA
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Palmoplantar keratodermas

Gene: CSTA

Green List (high evidence)
CSTA (cystatin A)
EnsemblGeneIds (GRCh38): ENSG00000121552
EnsemblGeneIds (GRCh37): ENSG00000121552
OMIM: 184600, Gene2Phenotype
CSTA is in 7 panels

1 review

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

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

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

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • susceptibility to psoriasis
  • susceptility to atopic dermatitis
  • Exfoliative ichthyosis/acral peeling skin syndrome
OMIM
184600
Clinvar variants
Variants in CSTA
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 CSTA.

28 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 Palmoplantar keratodermas. 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 susceptibility to psoriasis; susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome