GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ALG12

ALG12 (ALG12, alpha-1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000182858
EnsemblGeneIds (GRCh37): ENSG00000182858
OMIM: 607144, Gene2Phenotype
ALG12 is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ig 607143

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 Ig 607143

OMIM

607144

Clinvar variants

Variants in ALG12

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: ALG12 was added gene: ALG12 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ALG12