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Genetic epilepsy syndromes

Gene: DHX30

Green List (high evidence)

DHX30 (DExH-box helicase 30)
EnsemblGeneIds (GRCh38): ENSG00000132153
EnsemblGeneIds (GRCh37): ENSG00000132153
OMIM: 616423, Gene2Phenotype
DHX30 is in 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with severe motor impairment and absent language 617804
OMIM
616423
Clinvar variants
Variants in DHX30
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DHX30.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DHX30.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DHX30 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

9 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DHX30 was created by Sarah Leigh