Skeletal dysplasia

Gene: ALG9

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, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 25966638

I don't know

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: ALG9; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported in the overlapping phenotypes

Created: 1 Aug 2016, 12:38 p.m.

Green List (high evidence)

Tier 2

Created: 15 Jun 2016, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice