Skeletal dysplasia

Gene: ABCC9

Green List (high evidence)

distinct osteochondrodysplasia, metaphyseal widening of long bones. Short stature in a few individuals, ultimate adult height in normal range. Green - Some short stature though many newborns have macrosomia. Other skeletal abnormalities.; Review on behalf of Tracy Lester

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)

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: ABCC9; Initial rating suggestion: green

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

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.

Created: 13 Jul 2016, 7:27 a.m.

Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza)
Associated with phenotype in G2P. Numerous variants reported in this phenotype.

Created: 13 Jul 2016, 7:26 a.m.

Green List (high evidence)

Tier 1

Created: 15 Jun 2016, 2:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrichotic osteochondrodysplasia 239850

Variants in this GENE are reported as part of current diagnostic practice