GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ALG3

ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 is in 11 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Id 601110

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Congenital disorder of glycosylation, type Id 601110

OMIM

608750

Clinvar variants

Variants in ALG3

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ALG3 was added gene: ALG3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ALG3