Skeletal dysplasia
Gene: MKS1
polydactyly-syndactyly-triphalangism SD gp, several families, mostly Finnish with founder mutation (29bp del in intron 15); Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000
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: MKS1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Numerous variants reported in these phenotypesCreated: 12 Jul 2016, 10 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Meckel syndrome 1 249000; Bardet-Biedl syndrome 13 615990 for gene: MKS1
Source NHS GMS was added to MKS1. 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 MKS1 were set to Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000
Mode of inheritance for MKS1 was changed to BIALLELIC, autosomal or pseudoautosomal
MKS1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
MKS1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
MKS1 was added to Unexplained skeletal dysplasiapanel. Sources:
MKS1 was created by sleigh