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Fetal anomalies

Gene: DHX30

Green List (high evidence)
DHX30 (DExH-box helicase 30)
EnsemblGeneIds (GRCh38): ENSG00000132153
EnsemblGeneIds (GRCh37): ENSG00000132153
OMIM: 616423, Gene2Phenotype
DHX30 is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.78

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Green List (high evidence)

Associated with AD neurodevelopmental condition (microcephaly, developmental delay/intellectual disability, absent speech, brain anomalies.) Mostly de novo cases, one gonadal mosaic (PMID: 37094863). More severe phenotypes associated with missense variants in helicase core domain, with a proposed selective gain-of-function mechanism (functional studies show loss of ATPase and helicase activity, leading to a detrimental stress granule formation). Loss of function variants are associated with a milder phenotype [PMID: 34020708]. Postnatal CNS anomalies: most commonly cerebral atrophy and delayed myelination. Abnormalities of corpus callosum and other prenatally detectable anomalies seen more rarely (PMID: 34020708: partial agenesis of corpus callosum (1/17), Chiari type 1 malformation (1/17), PVL (1/17); PMID 29100085: CNS abnormalities in 9/12 cases, 1/12 had corpus callosum abnormality. PMID: 38366977: Prenatal presentation with isolated dysgenesis of corpus callosum.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with variable motor and language impairment, MIM#617804

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804
OMIM
616423
Clinvar variants
Variants in DHX30
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: DHX30. Tag Q1_25_ promote_green was removed from gene: DHX30.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to DHX30. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: DHX30. Tag Q1_25_ promote_green tag was added to gene: DHX30.

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DHX30 were changed from Neurodevelopmental Disorder; Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 to Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804

20 Feb 2025, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to DHX30. Mode of inheritance for gene DHX30 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 for gene: DHX30 Publications for gene: DHX30 were updated from to 34020708; 38366977; 34145223; 34180050; 37094863; 36643085

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DHX30 was added gene: DHX30 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder