Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: GDF6EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gdf6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gdf6 has been classified as Amber List (Moderate Evidence).
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