CSTA

cystatin A
OMIM: 184600, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CSTA in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.4

review 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
Amber CSTA in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 4, OMIM:607936
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review
Green CSTA in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 4, OMIM:607936
Green CSTA in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review 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
Amber CSTA in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review 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
Amber CSTA in Fetal anomalies


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE
Green CSTA in DDG2P


Version 4.5
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936