Genomics England
GMS Panels
Panels
Genes and Entities

PTCHD1

patched domain containing 1
OMIM: 300828
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AUTISM/ID 300830
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AUTISM/ID