Skeletal dysplasia
Gene: ACAN
yes - aggrecan gp of SD. Previously called AGC1. Green - short stature part of OMIM clinical description ; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 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 165800Created: 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.
Tier 1Created: 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
Added phenotypes Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283; Spondyloepiphyseal dysplasia, Kimberley type 608361 for gene: ACAN
Source NHS GMS was added to ACAN. 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).
Publications for ACAN were set to 24762113
This gene has been classified as Red List (Low Evidence).
Phenotypes for ACAN were set to Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283; Spondyloepiphyseal dysplasia, Kimberley type 608361
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
ACAN was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen ACAN was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory ACAN was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
ACAN was added to Unexplained skeletal dysplasiapanel. Sources:
ACAN was created by sleigh