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  2. Structural eye disease
  3. DOCK6
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Structural eye disease

Gene: DOCK6

Green List (high evidence)
DOCK6 (dedicator of cytokinesis 6)
EnsemblGeneIds (GRCh38): ENSG00000130158
EnsemblGeneIds (GRCh37): ENSG00000130158
OMIM: 614194, Gene2Phenotype
DOCK6 is in 7 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Sukalo et al reported five unrelated cases with microphthalmia among a cohort of 15 families with Adams- Oliver Syndrome, all homozygous or compound heterozygous. Segregation in parents and siblings was observed in four families, for the fifth family parental samples were unavailable
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Adams-Oliver Syndrome 2, AOS2

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • Adams-Oliver Syndrome 2, AOS2, 614219
OMIM
614194
Clinvar variants
Variants in DOCK6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 3

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to DOCK6. Source NHS GMS was added to DOCK6. Publications for gene DOCK6 were changed from to 25824905 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to DOCK6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: DOCK6 was added gene: DOCK6 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK6 were set to Adams-Oliver Syndrome 2, AOS2, 614219