Skeletal dysplasia
Gene: SKI
Craniosynostosis syndrome gp of SD, several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome 182212
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: SKI; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 3 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shprintzen-Goldberg syndrome 182212
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Shprintzen-Goldberg syndrome 182212 for gene: SKI
Source NHS GMS was added to SKI. 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 SKI were set to Shprintzen-Goldberg syndrome 182212
Mode of inheritance for SKI was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SKI was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
SKI was added to Unexplained skeletal dysplasiapanel. Sources:
SKI was created by sleigh