Genomics England
GMS Panels
Panels
Genes and Entities

COL10A1

collagen type X alpha 1 chain
OMIM: 120110
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal chondrodysplasia, Schmid type 156500