Skeletal dysplasia
Gene: COL10A1
In metaphyseal dysplasias gp of SD. Both nonsense and missense variants, primarily in C-terminal NC1 domain. Green; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal chondrodysplasia, Schmid type 156500
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL10A1; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:28 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 13 Jul 2016, 8:11 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:36 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal chondrodysplasia, Schmid type 156500
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Source NHS GMS was added to COL10A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for COL10A1 were set to Metaphyseal chondrodysplasia, Schmid type 156500
Mode of inheritance for COL10A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
COL10A1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL10A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
COL10A1 was added to Unexplained skeletal dysplasiapanel. Sources:
COL10A1 was created by sleigh