Early onset or syndromic epilepsy
Gene: DOCK7
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR EIEE 23. 3 girls from 2 unrelated families with EIEE all developed intractable seizures between 2 and 6 months of age. 4 diff compound het truncating variants detected. Three missense variants on HGMD Pro.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 23,615859
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Source Wessex and West Midlands GLH was added to DOCK7.
Source NHS GMS was added to DOCK7.
Ellen McDonagh: Gene added in expert review of
Victorian Clinical Genetics Services was added to DOCK7. Panel: Genetic Epilepsy Syndromes
DOCK7 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
DOCK7 was created by Sarah Leigh