GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ALG9

ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 13 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Tham et al 2016 report 2 unrelated families with SD and a splice-site variant, they note that other cases reported with missense variants did not have SD. 5/7 Arabic cases reported by Alshubi et al 2017 had mild SD (all with same variant).; 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 Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210

Publications

25966638

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

Gillessen-Kaesbach-Nishimura syndrome 263210
Congenital disorder of glycosylation, type Il 608776

OMIM

606941

Clinvar variants

Variants in ALG9

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: ALG9 was added gene: ALG9 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome 263210; Congenital disorder of glycosylation, type Il 608776

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ALG9