Genomics England
GMS Panels
Panels
Genes and Entities

CCDC47

coiled-coil domain containing 47
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woolly hair, Abnormality of the liver, Global developmental delay, Intellectual disability, Trichohepatoneurodevelopmental syndrome, 618268