GPC6

PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMODYSPLASIA TYPE 1 (OMOD1) [ 258315
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Omodysplasia 1, OMIM:258315, Autosomal recessive omodysplasia, MONDO:0009779
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Omodysplasia 1 258315