1. Genes and Genomic Entities
  2. CACHD1

CACHD1

cache domain containing 1
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber CACHD1 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
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • syndromic complex neurodevelopmental disorder, MONDO:0800439
Amber CACHD1 in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • syndromic complex neurodevelopmental disorder, MONDO:0800439
    Tags
    • dd_review
    • Q1_25_ promote_green