Skeletal dysplasia
Gene: ALG12
Kranz et al 2007 described 2 sibs with a unique short limb SD. Murali et al 2014 report another case with rhizomelic short stature. Other cases have growth delay. Green - Resembles lysosomal storage diseases with skeletal involvement gp of SD. Greater than 3 cases reported. Kranz et al 2007 describe short limb SD in 2 sibs.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ig 607143
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: ALG12; 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, 8:03 a.m.
Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza)Created: 8 Jul 2016, 1:54 p.m.
Tier 3Created: 15 Jun 2016, 2:01 p.m.
Mode of inheritance
Unknown
Phenotypes
Congenital disorder of glycosylation, type Ig 607143
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Congenital disorder of glycosylation, type Ig 607143 for gene: ALG12
Source NHS GMS was added to ALG12. 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 ALG12 were set to Congenital disorder of glycosylation, type Ig 607143
Mode of inheritance for ALG12 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ALG12 was added to Unexplained skeletal dysplasiapanel. Sources:
ALG12 was created by sleigh