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DDG2P

Gene: DHX9

Green List (high evidence)
DHX9 (DExH-box helicase 9)
EnsemblGeneIds (GRCh38): ENSG00000135829
EnsemblGeneIds (GRCh37): ENSG00000135829
OMIM: 603115, Gene2Phenotype
DHX9 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620988).
Created: 12 Mar 2025, 12:06 p.m. | Last Modified: 12 Mar 2025, 12:06 p.m.
Panel Version: 5.46
The DDG2P confidence category for the disease DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 37467750).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease
OMIM
603115
Clinvar variants
Variants in DHX9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DHX9 were changed from DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease

12 Mar 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: DHX9.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: DHX9.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DHX9 was added gene: DHX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX9 were set to 37467750 Phenotypes for gene: DHX9 were set to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease