Skeletal dysplasia
Gene: ALG3
tetraspastic paresis/arthrogryposis multiplex, a severe psychomotor handicap, and multiple dysmorphisms including microcephaly/clubfeet/contractures of hands. 7 siblings reported by Alshubi et al had mild SD .green - Resembles lysosomal storage diseases with skeletal involvement gp of SD and at least 3 families. SD described.; 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 Id 601110
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: ALG3; 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, 7:34 a.m.
Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza)Created: 8 Jul 2016, 1:56 p.m.
Tier 3Created: 15 Jun 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Id 601110
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Congenital disorder of glycosylation, type Id 601110 for gene: ALG3
Source NHS GMS was added to ALG3. 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).
Phenotypes for ALG3 were set to Congenital disorder of glycosylation, type Id 601110
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ALG3 was created by sleigh
ALG3 was added to Unexplained skeletal dysplasiapanel. Sources: