Early onset or syndromic epilepsy

Gene: DHX30

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 severe motor impairment and absent language - characterised by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding diff, ataxic gait or inability to walk, minimal or absent speech dev and severe ID. Seizures seen in some patients according to OMIM. Lessel et al, 2017 - 12 unrelated patients -3 had seizures - identified 6 diff de nov variants - cellular expression studies undertaken.

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 severe motor impairment and absent language, 617804

Publications

• 29100085

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 6 variants reported in 12 unrelated cases of Neurodevelopmental disorder with severe motor impairment and absent language (MIM 617804), seizures were reported in three of these cases cases.

Created: 9 Apr 2018, 5:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder with severe motor impairment and absent language 617804

Publications

• 29100085
• 28327206