CACHD1:Ensemblv90

cache domain containing 1
ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CACHD1 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic complex neurodevelopmental disorder MONDO:0800439

Green CACHD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic complex neurodevelopmental disorder MONDO:0800439

Green CACHD1 in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic complex neurodevelopmental disorder MONDO:0800439

Green CACHD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • syndromic complex neurodevelopmental disorder MONDO:0800439