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  3. CSTA
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Ichthyosis and erythrokeratoderma

Gene: CSTA

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 5 Dec 2024, 10:34 p.m. | Last Modified: 5 Dec 2024, 10:34 p.m.
Panel Version: 3.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Dec 2024, 10:34 p.m.
Last Modified: 5 Dec 2024, 10:34 p.m.
Panel version: 3.30

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
Created: 31 Oct 2023, 4:44 p.m. | Last Modified: 31 Oct 2023, 4:44 p.m.
Panel Version: 3.11
Created: 31 Oct 2023, 4:44 p.m.
Last Modified: 31 Oct 2023, 4:44 p.m.
Panel version: 3.11

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Created: 5 May 2023, 3:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
peeling skin syndrome-4 (PSS4)

Publications

Created: 5 May 2023, 3:11 p.m.

Panel version: 3.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 4, OMIM:607936
OMIM
184600
Clinvar variants
Variants in CSTA
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: CSTA. Tag Q4_23_NHS_review was removed from gene: CSTA.

5 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CSTA. Source NHS GMS was added to CSTA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 Oct 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: CSTA. Tag Q4_23_NHS_review tag was added to gene: CSTA.

31 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: csta has been classified as Amber List (Moderate Evidence).

31 Oct 2023, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CSTA were changed from peeling skin syndrome-4 (PSS4) to Peeling skin syndrome 4, OMIM:607936

5 May 2023, Gel status: 0

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

Tom Cullup (Great Ormond Street Hospital)

gene: CSTA was added gene: CSTA was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 21944047; 23534700 Phenotypes for gene: CSTA were set to peeling skin syndrome-4 (PSS4) Penetrance for gene: CSTA were set to unknown Review for gene: CSTA was set to GREEN