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  3. DHX16
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DDG2P

Gene: DHX16

Red List (low evidence)
DHX16 (DEAH-box helicase 16)
EnsemblGeneIds (GRCh38): ENSG00000204560
EnsemblGeneIds (GRCh37): ENSG00000204560
OMIM: 603405, Gene2Phenotype
DHX16 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DHX16-related intellectual disability, central nervous system anomalies and seizures are limited, monoallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02756.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Intellectual Disability, Central Nervous System anomalies and Seizures is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMID:31256877).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
Intellectual Disability, Central Nervous System anomalies and Seizures; DHX16-related intellectual disability, central nervous system anomalies and seizures; OMIM:618733.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: Intellectual Disability, Central Nervous System anomalies and Seizures. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: uncertain. DDG2P allelic requirement: monoallelic.
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130
Created: 8 Oct 2019, 3:13 p.m.
Last Modified: 8 Oct 2019, 3:13 p.m.
Panel version: 1.130

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Intellectual Disability, Central Nervous System anomalies and Seizures
OMIM
603405
Clinvar variants
Variants in DHX16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: DHX16 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene DHX16 was changed from Other - please provide details in the comments to Other

8 Oct 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: DHX16 was added gene: DHX16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX16 were set to 31256877 Phenotypes for gene: DHX16 were set to Intellectual Disability, Central Nervous System anomalies and Seizures Mode of pathogenicity for gene: DHX16 was set to Other - please provide details in the comments