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Fetal anomalies

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

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 set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
PMID 37467750: 17 individuals with candidate disease-causing DHX9 variants, 14 with NDDs. Other than DD/ID (postnatal presentation) other common clinically observed features included axial hypotonia (7/14) and dysmorphic features (8/14) - facial dysmorphology included ear abnormalities (low-set, posteriorly rotated ears; small ears with overfolded superior helices; and thick helices), hypertelorism, micrognathia, short downslanted palpebral fissures, a thick upper lip, a short philtrum, midface hypoplasia, and macrodontia of upper-jaw central incisors. Digital anomalies, including fifth-finger clinodactyly, brachydactyly, long tapered fingers, postaxial polydactyly, and short hypoplastic fifth fingernails, were also reported in multiple individuals. Six individuals had either congenital or postnatal microcephaly (Z scores -2.14 to -3.39). Brain MRI was abnormal in five individuals studied. Imaging findings included white-matter volume loss with enlargement of the ventricles, thinning of the corpus callosum, and cerebral and cerebellar atrophy. Other features seen in two or more individuals were cardiac abnormalities (4/14), hyperreflexia (3/14), failure to thrive (2/14), short stature (3/14), and a history of recurrent infections (2/14).
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 75

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 75, OMIM:620988
OMIM
603115
Clinvar variants
Variants in DHX9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: DHX9. Tag Q3_25_NHS_review was removed from gene: DHX9.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to DHX9. Source NHS GMS was added to DHX9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DHX9 were changed from Intellectual developmental disorder, autosomal dominant 75 to Intellectual developmental disorder, autosomal dominant 75, OMIM:620988

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: DHX9. Tag Q3_25_NHS_review tag was added to gene: DHX9.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: DHX9 was added gene: DHX9 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX9 were set to 37369308; 37467750 Phenotypes for gene: DHX9 were set to Intellectual developmental disorder, autosomal dominant 75