Skeletal dysplasia
Gene: ALG9
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 LesterCreated: 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
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: greenCreated: 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 phenotypesCreated: 1 Aug 2016, 12:38 p.m.
Tier 2Created: 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
Added phenotypes Gillessen-Kaesbach-Nishimura syndrome 263210; Congenital disorder of glycosylation, type Il 608776 for gene: ALG9
Source NHS GMS was added to ALG9. 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 ALG9 were set to Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210
This gene has been classified as Red List (Low Evidence).
Publications for ALG9 were set to 25966638
Phenotypes for ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome 263210
Mode of inheritance for ALG9 was changed to BIALLELIC, autosomal or pseudoautosomal
ALG9 was added to Unexplained skeletal dysplasiapanel. Sources:
ALG9 was created by sleigh