Limb disorders
Gene: DOCK6EnsemblGeneIds (GRCh38): ENSG00000130158
EnsemblGeneIds (GRCh37): ENSG00000130158
OMIM: 614194, Gene2Phenotype
DOCK6 is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 9:46 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adams-Oliver syndrome 2 614219
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Adams-Oliver syndrome 2, 614219
- OMIM
- 614194
- Clinvar variants
- Variants in DOCK6
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DOCK6 were set to Adams-Oliver syndrome 2, 614219
Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to DOCK6. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to DOCK6. Panel: Limb disorders Expert list was added to DOCK6. Panel: Limb disorders Model of inheritance for gene DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to DOCK6. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)DOCK6 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)DOCK6 was created by Ellen McDonagh