Genomics England
GMS Panels
Panels
Genes and Entities

CACHD1

cache domain containing 1
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities, syndromic complex neurodevelopmental disorder, MONDO:0800439
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
syndromic complex neurodevelopmental disorder, MONDO:0800439