Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: GDF6

Amber List (moderate evidence)

GDF6 (growth differentiation factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One compound heterozygote and three cases with a single heterozygous variant where unaffected parent carrier status and allele frequency of variants in gnomAD suggest presence of a second unidentified allele. Supporting in vitro functional assays and retinal apoptosis is observed in both murine and zebrafish mutant models, a characteristic feature of human retinal dystrophies.
Sources: Expert list
Created: 21 May 2020, 10:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 17 MIM#615360

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leber congenital amaurosis 17 MIM#615360
OMIM
601147
Clinvar variants
Variants in GDF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gdf6 has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gdf6 has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GDF6 was added gene: GDF6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: GDF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF6 were set to 23307924 Phenotypes for gene: GDF6 were set to Leber congenital amaurosis 17 MIM#615360 Review for gene: GDF6 was set to AMBER