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Intellectual disability

Gene: DHRSX

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

7 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #301133).
Created: 12 Mar 2025, 12:37 p.m. | Last Modified: 12 Mar 2025, 12:37 p.m.
Panel Version: 8.128
Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 10 Oct 2024, 8 p.m. | Last Modified: 10 Oct 2024, 8:11 p.m.
Panel Version: 7.60
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.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Created: 10 Oct 2024, 7:36 p.m. | Last Modified: 10 Oct 2024, 7:37 p.m.
Panel Version: 7.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital disorder of glycosylation, MONDO:0015286; intellectual disability, MONDO:0001071

Publications

Created: 10 Oct 2024, 7:36 p.m.
Last Modified: 10 Oct 2024, 8:11 p.m.
Panel version: 7.57

Miel Theunis (UZ Leuven)

Green List (high evidence)

The authors describe four individuals from three families with a novel congenital disorder of glycosylation (CDG).
3/4 Patients showed a N-glycosilation defect (CDG type I). However, the transferrin glycosylation profile of patient 3 normalized at 17 months of age and was normal in his brother, patient 4.
Created: 8 Aug 2024, 2:29 p.m. | Last Modified: 8 Aug 2024, 2:29 p.m.
Panel Version: 7.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CDG

Publications

Mode of pathogenicity
Other

Created: 8 Aug 2024, 2:29 p.m.
Last Modified: 8 Aug 2024, 2:29 p.m.
Panel version: 7.1

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: This gene is in the pseudoautosomal region shared between chromosomes X and Y. The mode of inheritance should therefore be set to Biallelic or Monoallelic once more cases establish the inheritance pattern.
Created: 19 Nov 2019, 6:16 p.m. | Last Modified: 19 Nov 2019, 6:16 p.m.
Panel Version: 2.1101
Created: 19 Nov 2019, 6:16 p.m.
Last Modified: 19 Nov 2019, 6:16 p.m.
Panel version: 2.1101

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Candidate gene for ID in PMID: 26350204. Not found in OMIM or Gene2Phenotype or literature search for ID association.
Created: 27 Oct 2017, 2:46 p.m.
Created: 27 Oct 2017, 2:46 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.2

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:16 a.m.

Panel version: 0.306

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type 1DD, OMIM:301133
Tags
Pseudoautosomal region 1 gene-checked
Clinvar variants
Variants in DHRSX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286; intellectual disability, MONDO:0001071 to Congenital disorder of glycosylation, type 1DD, OMIM:301133

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: DHRSX.

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: DHRSX.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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

10 Oct 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; intellectual disability, MONDO:0001071

10 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

10 Oct 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DHRSX were set to

10 Oct 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: DHRSX was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

10 Oct 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: DHRSX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Oct 2024, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: DHRSX.

4 Nov 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag Pseudoautosomal region 1 tag was added to gene: DHRSX.

19 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: DHRSX was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Unknown

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DHRSX was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DHRSX was created by ellenmcdonagh