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Retinal disorders

Gene: GDF6

Red List (low evidence)

GDF6 (growth differentiation factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 12 panels

1 review

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

LCA reported but variants are probably not rare enough
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant, 118100
  • Leber congenital amaurosis 17
  • Microphthalmia with coloboma 6, digenic
  • Microphthalmia, isolated 4
OMIM
601147
Clinvar variants
Variants in GDF6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GDF6.

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GDF6 was created by ellenmcdonagh

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GDF6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red