Genomics England
GMS Panels
Panels
Genes and Entities

CCDC22

coiled-coil domain containing 22
OMIM: 300859
PanelMode of inheritanceDetails
3 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
SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ritscher-Schinzel syndrome 2, OMIM:300963
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
SYNDROMIC X-LINKED INTELLECTUAL DISABILITY