Skeletal dysplasia

Gene: COL10A1

Green List (high evidence)

In metaphyseal dysplasias gp of SD. Both nonsense and missense variants, primarily in C-terminal NC1 domain. Green; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Metaphyseal chondrodysplasia, Schmid type 156500

I don't know

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: Green

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 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.

Green List (high evidence)

Tier 1

Created: 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