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Epidermolysis bullosa and congenital skin fragility

Gene: CSTA

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

4 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Hyperhidrosis HP:0000975;Peeling skin HP:0040189;OMIM:607936;erythema HP:0010783;Peeling skin syndrome 4, 607936;palmoplantar hyperkeratosis HP:0007530;Hyperkeratosis HP:0000962;Erythroderma HP:0001019;Lichenification HP:0100725;Ichthyosis HP:0008064;skin erosions HP:0200041
Created: 24 Mar 2021, 11:19 a.m. | Last Modified: 24 Mar 2021, 11:19 a.m.
Panel Version: 1.12
Created: 24 Mar 2021, 11:19 a.m.
Last Modified: 24 Mar 2021, 11:19 a.m.
Panel version: 1.12

Rebecca Foulger (Genomics England curator)

Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Created: 15 Jan 2019, 10:35 a.m.
Comment Imported from Peeling skin syndrome panel version 0.21: Comment when marking as ready: Expert review for CSTA is green, Probable DD gene, and >3 cases in OMIM.
Created: 5 Dec 2016, 10:15 a.m.
Comment Imported from Peeling skin syndrome panel version 0.21: Comment on list classification: Updated rating from Red to Green: Expert review for CSTA is green and >3 unrelated cases in OMIM (4 unrelated families of different ethnic origin).
Created: 2 Dec 2016, 11:04 a.m.
Created: 2 Dec 2016, 11:04 a.m.

Panel version: 0.11

David Kelsell (Queen Mary University of London)

Green List (high evidence)

phenotypes are as described in submitted panel
Created: 3 May 2016, 1:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 May 2016, 1:41 p.m.

Panel version: Imported from Peeling skin syndrome panel version 0.13

Ellen McDonagh (Genomics England Curator)

Is a probable DD gene for EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE.
Created: 27 Apr 2016, 8:43 a.m.
Created: 27 Apr 2016, 8:43 a.m.

Panel version: Imported from Peeling skin syndrome panel version 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 4, OMIM:607936
OMIM
184600
Clinvar variants
Variants in CSTA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CSTA were changed from Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 4, OMIM:607936

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CSTA was added gene: CSTA was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047 Phenotypes for gene: CSTA were set to Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041