Peeling skin syndrome

Gene: CSTA

Green List (high evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

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 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.

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Peeling skin syndrome 4, 607936
  • OMIM:607936
  • Peeling skin HP:0040189
  • Ichthyosis HP:0008064
  • skin erosions HP:0200041
  • erythema HP:0010783
  • palmoplantar hyperkeratosis HP:0007530
  • Hyperhidrosis HP:0000975
  • Lichenification HP:0100725
  • Hyperkeratosis HP:0000962
  • Erythroderma HP:0001019
OMIM
184600
Clinvar variants
Variants in CSTA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

2 Dec 2016, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

2 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

27 Apr 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

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

27 Apr 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

27 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CSTA was created by ellenmcdonagh

27 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CSTA was added to Peeling skin syndromepanel. Sources: Research