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Intellectual disability

Gene: DHX37

Green List (high evidence)
DHX37 (DEAH-box helicase 37)
EnsemblGeneIds (GRCh38): ENSG00000150990
EnsemblGeneIds (GRCh37): ENSG00000150990
OMIM: 617362, Gene2Phenotype
DHX37 is in 3 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.
Panel Version: 7.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 2:57 p.m.
Last Modified: 26 Sep 2024, 2:57 p.m.
Panel version: 7.41

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

There is insufficient evidence for dev delay/ID being caused by monoallelic variants in this gene and therefore it should only be green on the R29 panel for biallelic inheritance
Created: 23 Jan 2024, 10:31 a.m. | Last Modified: 23 Jan 2024, 10:31 a.m.
Panel Version: 5.405

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; developmental delay

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jan 2024, 10:31 a.m.
Last Modified: 23 Jan 2024, 10:31 a.m.
Panel version: 5.405

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: The mode of inheritance for DHX37 on the Intellectual disability panel should be biallelic as monoallelic variants have not been associated with intellectual disability.
Created: 6 Feb 2024, 4:46 p.m. | Last Modified: 12 Feb 2024, 3:27 p.m.
Panel Version: 5.450
Biallelic DHX37 variants have been associated with Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (OMIM:618731). Five DHX37 variants have been reported in three unrelated cases of OMIM:618731. Zebra fish models, support the role of DHX37 variants in aberrant behaviors (PMID: 24027265)
Created: 6 Feb 2024, 4:44 p.m. | Last Modified: 6 Feb 2024, 4:44 p.m.
Panel Version: 5.448
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 12 Feb 2024, 3:27 p.m.
Panel version: 5.448

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least 6 unrelated cases with ID associated with variants in this gene (albeit association with monoallelic variants in 2 cases warrants further investigation).
Created: 18 Sep 2020, 3:43 p.m. | Last Modified: 18 Sep 2020, 3:51 p.m.
Panel Version: 3.315
- PMID: 26539891 (2015) - Identified as a candidate gene in two unrelated cases with homozygous variants (c.C1257A; p.N419K and c.G1460A; p.R487H). One patient presented ID/DD, severe microcephaly, seizures, and cortical atrophy; while the other had ID, severe microcephaly, polymicrogyria, and dysgenesis of the corpus callosum. No functional studies were undertaken.

- PMID: 31256877 (2019) - Five patients with homozygous (one), compound-heterozygous (two), or de novo (two) missense variants in DHX37. All affected individuals presented ID and/or DD and CNS dysfunction, among other variable features such as vertebral anomalies (3/5), ocular abnormalities (2/5), cardiac findings (2/5) and seizures (2/5). No functional studied were undertaken. [Note: homozygous individuals previously described in PMID:26539891].
Created: 18 Sep 2020, 3:41 p.m. | Last Modified: 18 Sep 2020, 3:41 p.m.
Panel Version: 3.314

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731

Publications

Created: 18 Sep 2020, 3:41 p.m.
Last Modified: 18 Sep 2020, 3:51 p.m.
Panel version: 3.314

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease

Much less clear association between mono-allelic variants and ID, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic variants causing a neurodevelopmental phenotype at this stage. Note there is a separate association between mono allelic variants and DSD.
Sources: Literature
Created: 7 Sep 2020, 10:18 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Sep 2020, 10:18 p.m.

Panel version: 3.289

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731
OMIM
617362
Clinvar variants
Variants in DHX37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_MOI was removed from gene: DHX37. Tag Q1_24_NHS_review was removed from gene: DHX37.

26 Sep 2024, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to DHX37. Mode of inheritance for gene DHX37 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 Feb 2024, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_24_MOI tag was added to gene: DHX37. Tag Q1_24_NHS_review tag was added to gene: DHX37.

6 Feb 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: DHX37 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Feb 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DHX37 were set to 26539891; 31256877

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: DHX37.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to DHX37. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dhx37 has been classified as Amber List (Moderate Evidence).

18 Sep 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: DHX37.

7 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DHX37 was added gene: DHX37 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DHX37 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHX37 were set to 26539891; 31256877 Phenotypes for gene: DHX37 were set to Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 Review for gene: DHX37 was set to GREEN gene: DHX37 was marked as current diagnostic