CSTA

cystatin A
OMIM: 184600, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CSTA in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 4 (MIM#607936)

Green CSTA in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.23

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peeling skin syndrome 4 MIM#607936
  • exfoliative ichthyosis

Green CSTA in Mendeliome


Version 1.4216

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 4 MIM#607936
  • exfoliative ichthyosis

Green CSTA in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 4 #607936

Red CSTA in Additional findings_Paediatric


Level 2: Screening
Version 0.280

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Exfoliative ichthyosis

Red CSTA in Fetal anomalies


Version 1.522

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Peeling skin syndrome 4, MIM# 607936

Red CSTA in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.147

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Exfoliative ichthyosis