Disorders of sex development
Gene: DHX37The 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
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
Seventeen individuals reported in two studies.
Sources: LiteratureCreated: 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
Tag for-review was removed from gene: DHX37.
Source Expert Review Green was added to DHX37. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: DHX37.
Publications for gene: DHX37 were set to 31337883; 31745530
Phenotypes for gene: DHX37 were changed from 46,XY gonadal dysgenesis; testicular regression syndrome (TRS) to 46, XY sex reversal 11, 273250
Gene: dhx37 has been classified as Amber List (Moderate Evidence).
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