Skeletal dysplasia
Gene: GDF6
118100 - Dysostoses with predominant vertebral with and without costal involvement gp of SD.- 3 cases reported. ALSO MUTATED IN 615360, 613703, 613094; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Klippel-Feil syndrome 1, autosomal dominant 118100; Multiple synostoses syndrome type 4 - 617898.
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: GDF6; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100 and Microphthalmia, isolated 4 613094 in OMIM and G2P. At least four variants reported in lippel-Feil syndrome 1, autosomal dominant 118100Created: 28 Jul 2016, 1:16 p.m.
Comment on mode of inheritance: Leber congenital amaurosis 17 (615360) is biallelic and inheritance is not stated for the other phenotypesCreated: 28 Jul 2016, 1:08 p.m.
Comment on phenotypes: Variants also reported in Leber congenital amaurosis 17 615360, Microphthalmia with coloboma 6, digenic 613703 and Microphthalmia, isolated 4 613094Created: 28 Jul 2016, 1:06 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100; Multiple synostoses syndrome type 4 - 617898. for gene: GDF6 Publications for gene GDF6 were changed from to 18425797
Source NHS GMS was added to GDF6. 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).
Mode of inheritance for GDF6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
GDF6 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant 118100
GDF6 was added to Unexplained skeletal dysplasiapanel. Sources:
GDF6 was created by sleigh