Genomics England
GMS Panels
Panels
Genes and Entities

CCDC32

coiled-coil domain containing 32
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CCDC32-associated neurodevelopmental syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiofacioneurodevelopmental syndrome, OMIM:619123
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiofacioneurodevelopmental syndrome, OMIM:619123, cardiofacioneurodevelopmental syndrome, MONDO:0030873