Skeletal dysplasia

Gene: ACAN

Green List (high evidence)

yes - aggrecan gp of SD. Previously called AGC1. Green - short stature part of OMIM clinical description ; Review on behalf of Tracy Lester

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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283; Spondyloepiphyseal dysplasia, Kimberley type 608361

Publications

• 24762113

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: ACAN; Initial rating suggestion: green

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

Comment on list classification: Only one variant reported for Spondyloepimetaphyseal dysplasia, aggrecan type 612813 and Spondyloepiphyseal dysplasia, Kimberley type 608361. Four variants reported for Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800

Created: 1 Aug 2016, 12:14 p.m.

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)

Created: 21 Jun 2016, 12:24 p.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
Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283; Spondyloepiphyseal dysplasia, Kimberley type 608361

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