Ocular coloboma
Gene: GDF6
GDF6 (growth differentiation factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 11 panels
1 review
Alice Gardham (Genomics England)
Limited literature to confirm association with coloboma although definite ocular phenotype. Recognised on G2P as causing colobomaCreated: 16 Nov 2016, 2:38 p.m.
Limited literature to confirm association with coloboma although definite ocular phenotype. Recognised on G2P as causing colobomaCreated: 16 Nov 2016, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia with coloboma 6, 613703
Publications
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Klippel-Feil syndrome 1, autosomal dominant, 118100
- OMIM
- 601147
- Clinvar variants
- Variants in GDF6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
6 Feb 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)GDF6 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen