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Intellectual disability

Gene: DHX37

Amber List (moderate evidence)

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

2 reviews

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

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731
Tags
for-review
OMIM
617362
Clinvar variants
Variants in DHX37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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