Genomics England
GMS Panels
Panels
Genes and Entities

CC2D1A

coiled-coil and C2 domain containing 1A
OMIM: 610055
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
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
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
Intellectual developmental disorder, autosomal recessive 3, OMIM:608443