Disorders of sex development

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

3 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 1:33 p.m. | Last Modified: 3 Mar 2022, 1:33 p.m.
Panel Version: 2.57

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review.
Created: 18 Sep 2020, 4:59 p.m. | Last Modified: 18 Sep 2020, 4:59 p.m.
Panel Version: 2.7
- PMID: 31287541 (2019) - Four heterozygous missense variants in the DHX37 gene were identified in 11 familial cases from 5 unrelated families and in six sporadic cases of varying ethnicities, with 46,XY gonadal dysgenesis. No functional studies of the variants were carried out but immunohistochemistry analysis in human testis showed that DHX37 is mainly expressed in germ cells at different stages of testis maturation.

- PMID: 31745530 (2019) - Four unrelated individuals with sporadic partially virilized DSD, associated with heterozygous variants (p.R308Q and p.T477M) in DHX37. [Note: the same three individuals with the p.R308Q variant were also reported in PMID: 31337883].

- PMID: 31337883 (2020) - 13 individuals with 46,XY disorders of sex differentiation who were heterozygous for missense variants in the DHX37 gene, including recurrent p.R308Q and p.T304M variants and 6 other variants.
Created: 18 Sep 2020, 4:59 p.m. | Last Modified: 18 Sep 2020, 4:59 p.m.
Panel Version: 2.6

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

Phenotypes
46, XY sex reversal 11, 273250

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seventeen individuals reported in two studies.
Sources: Literature
Created: 2 May 2020, 2:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
46,XY gonadal dysgenesis; testicular regression syndrome (TRS)

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • 46, XY sex reversal 11, 273250
OMIM
617362
Clinvar variants
Variants in DHX37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: DHX37.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

22 Sep 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

22 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DHX37 were set to 31337883; 31745530

22 Sep 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DHX37 were changed from 46,XY gonadal dysgenesis; testicular regression syndrome (TRS) to 46, XY sex reversal 11, 273250

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).

2 May 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 Disorders of sex development. Sources: Literature Mode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX37 were set to 31337883; 31745530 Phenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS) Review for gene: DHX37 was set to GREEN gene: DHX37 was marked as current diagnostic