COL10A1

collagen type X alpha 1 chain
OMIM: 120110, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green COL10A1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type, MIM#156500

Green COL10A1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type 156500

Green COL10A1 in Metaphyseal dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type 156500

Green COL10A1 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type, MIM#156500