Genetic epilepsy syndromesGene: HECW2
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
AD neurodevelopmental disorder with hypotonia, seizures and absent language. Halvardson et al, 2016 - severe dev delay, absent speech, epilepsy, encephalopathy - had a de novo het mutation. Berko et al, 2017 - 7 patients incl 2 monzygotic twin sisters 4/7 had seizures (including the twins), 2/7 had EEG findings suggestive of and 1/7 did not have seizures. 4 diff de novo het missense variants identifed. No functional work done.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in at least 6 unrelated cases.
Created: 10 Apr 2018, 9:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268
Source Wessex and West Midlands GLH was added to HECW2.
Source NHS GMS was added to HECW2.
Sarah Leigh: Gene originally listed on the
Victorian Clinical Genetics Services was added to HECW2. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
HECW2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
HECW2 was created by Sarah Leigh