Early onset or syndromic epilepsy

Gene: HECW2

I don't know

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

Green List (high evidence)

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

Phenotypes
Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268

Publications

• 27389779

Green List (high evidence)

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

Phenotypes
Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268

Publications

• 27389779
• 27334371