SLC30A5:Ensemblv90

solute carrier family 30 member 5
OMIM: 607819, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber SLC30A5 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiomyopathy MONDO:0004994, SLC30A5-related
  • Perinatal lethal cardiomyopathy

Amber SLC30A5 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiomyopathy MONDO:0004994, SLC30A5-related
  • Perinatal lethal cardiomyopathy

Amber SLC30A5 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 0.208

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiomyopathy MONDO:0004994, SLC30A5-related
  • Perinatal lethal cardiomyopathy

Amber SLC30A5 in Fetal anomalies


Version 1.482

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
  • Literature
Phenotypes
  • Cardiomyopathy MONDO:0004994, SLC30A5-related
  • Perinatal lethal cardiomyopathy

Amber SLC30A5 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy MONDO:0004994, SLC30A5-related
  • Perinatal lethal cardiomyopathy