Early onset or syndromic epilepsy

Gene: DHRSX

I don't know

Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #301133).

Created: 12 Mar 2025, 12:36 p.m. | Last Modified: 12 Mar 2025, 12:36 p.m.

Panel Version: 7.53

Comment on list classification: There are two unrelated families reported with epilepsy and hence this gene should be promoted to amber.

Created: 10 Oct 2024, 8 p.m. | Last Modified: 10 Oct 2024, 8:23 p.m.

Panel Version: 6.10

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; epilepsy, MONDO:0005027

Publications

• 38821050

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

• 38821050

Mode of pathogenicity
Other

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

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)

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.

Red List (low evidence)