Skeletal dysplasia
Gene: ABCC9
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)
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: greenCreated: 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.
Tier 1Created: 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
Added phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) for gene: ABCC9
Source NHS GMS was added to ABCC9. 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).
This gene has been classified as Green List (High Evidence).
Phenotypes for ABCC9 were set to Hypertrichotic osteochondrodysplasia 239850
ABCC9 was added to Unexplained skeletal dysplasiapanel. Sources:
ABCC9 was created by sleigh