Epileptic encephalopathy
Gene: DOCK7EnsemblGeneIds (GRCh38): ENSG00000116641
EnsemblGeneIds (GRCh37): ENSG00000116641
OMIM: 615730, Gene2Phenotype
DOCK7 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Perrault et al (2014) AJHG 94(6). 891-897
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Perrault et al (2014) AJHG 94(6). 891-897
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Perrault et al (2014) AJHG 94(6). 891-897
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Perrault et al (2014) AJHG 94(6). 891-897
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on phenotypes: Sourced from gene2phenotypeCreated: 17 Dec 2015, 3:25 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
- EIEE23
- OMIM
- 615730
- Clinvar variants
- Variants in DOCK7
- Penetrance
- Complete
- Publications
-
- Perrault et al (2014) AJHG 94(6). 891-897
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)DOCK7 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Richard Scott (North Thames GMC/UCL)DOCK7 was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)DOCK7 was created by Reviewer_03