Skeletal dysplasia

Gene: GDF6

Green List (high evidence)

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 Lester

Created: 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

• 18425797

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: GDF6; Initial rating suggestion: green

Created: 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 118100

Created: 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 phenotypes

Created: 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 613094

Created: 28 Jul 2016, 1:06 p.m.

Green List (high evidence)

Tier 2

Created: 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