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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. GDF6
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: GDF6

Green List (high evidence)
GDF6 (growth differentiation factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 11 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant 118100
  • Multiple synostoses syndrome type 4 - 617898.
OMIM
601147
Clinvar variants
Variants in GDF6
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GDF6 was added gene: GDF6 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant 118100; Multiple synostoses syndrome type 4 - 617898.