CSTA

cystatin A
OMIM: 184600, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CSTA in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.2

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

Green CSTA in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

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

Green CSTA in Palmoplantar keratodermas


Version 1.9
Latest signed off version: v1.3 (15 Oct 2020)

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 1.40
Latest signed off version: v1.6 (15 Oct 2020)

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 1.717
Latest signed off version: v1.92 (21 Aug 2020)

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

Amber CSTA in DDG2P


Version 2.44
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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