Congenital Disorders of Glycosylation

Gene: DHRSX

Green List (high evidence)

DHRSX (dehydrogenase/reductase X-linked)
EnsemblGeneIds (GRCh38): ENSG00000169084
EnsemblGeneIds (GRCh37): ENSG00000169084
DHRSX is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Note gene is in PAR.
Sources: Literature
Created: 22 Oct 2024, 7:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital disorder of glycosylation, MONDO:0015286, DHRSX-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type 1DD, MIM# 301133
Clinvar variants
Variants in DHRSX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to Congenital disorder of glycosylation, type 1DD, MIM# 301133

24 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related

22 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related

22 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHSRX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related

22 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhrsx has been classified as Green List (High Evidence).

22 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhrsx has been classified as Green List (High Evidence).

22 Oct 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DHRSX was added gene: DHRSX was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHRSX were set to 38821050 Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHSRX-related Review for gene: DHRSX was set to GREEN