SLC30A5

solute carrier family 30 member 5
OMIM: 607819, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SLC30A5 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Perinatal lethal cardiomyopathy
  • cardiomyopathy, MONDO:0004994
Tags
  • watchlist
Amber SLC30A5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, hydrops fetalis, or cystic hygroma
Amber SLC30A5 in Paediatric or syndromic cardiomyopathy


Level 2: Cardiology
Version 7.96
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Perinatal lethal cardiomyopathy
    • cardiomyopathy, MONDO:0004994
    Tags
    • watchlist