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Early onset or syndromic epilepsy v3.30 DHDDS Arina Puzriakova Tag Q4_21_MOI was removed from gene: DHDDS.
Early onset or syndromic epilepsy v3.29 DHDDS Arina Puzriakova commented on gene: DHDDS: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.28 DHDDS Arina Puzriakova Mode of inheritance for gene DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.452 DHDDS Arina Puzriakova Publications for gene: DHDDS were set to 27343064; 29100083
Early onset or syndromic epilepsy v2.451 DHDDS Arina Puzriakova Tag Q4_21_MOI tag was added to gene: DHDDS.
Early onset or syndromic epilepsy v2.451 DHDDS Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Both mono- and biallelic' to 'Monoallelic' at the next GMS panel update. Monoallelic variants are associated with a neurodevelopmental disorder comprising DD/ID, epilepsy and a variable movement disorder phenotype - >3 unrelated individuals reported in literature. To date, only one individual with biallelic variants and epilepsy has been reported (PMID: 27343064). This patient presented with glycosylation defects but no corroborating cases have been reported since.
As only one patient has been described with biallelic inheritance and this phenotype, MOI should be set to 'Monoallelic' until evidence of additional cases emerges - biallelic variants would still be picked up by the Genomics England pipeline under this MOI.
Early onset or syndromic epilepsy v2.451 DHDDS Arina Puzriakova Mode of inheritance for gene: DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.450 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb,613861 to Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Early onset or syndromic epilepsy v1.191 DHDDS Rebecca Foulger Source Wessex and West Midlands GLH was added to DHDDS.
Early onset or syndromic epilepsy v1.190 DHDDS Rebecca Foulger Source NHS GMS was added to DHDDS.
Early onset or syndromic epilepsy v1.189 DHDDS Rebecca Foulger edited their review of gene: DHDDS: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 DHDDS Tracy Lester reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: ?Congenital disorder of glycosylation, 613861 , Developmental delay and seizures with or without movement abnormalities, 617836, Retinitis pigmentosa, 613861; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1528 DHDDS Rebecca Foulger Phenotypes for gene: DHDDS were changed from Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb; 613861 to Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb,613861
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Marked gene: DHDDS as ready
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Classified gene: DHDDS as Green List (high evidence)
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Added comment: Comment on list classification: Added gene to panel and rated green based on literature evidence (PMID:29100083) and relevant OMIM phenotype (MIM:617836). 5 unrelated heterozygous cases in PMID:29100083 plus 1 compound het case in PMID:27343064 for a patient with a glycosylation disorder including seizures. Therefore sufficient (>3) unrelated seizure cases for a diagnostic rating.
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1525 DHDDS Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM (and PMID:29100083) report AD inheritance for Developmental delay and seizures with or without movement abnormalities, 617836. In addition, Sabry et al (PMID:27343064) report one individual with a glycosylation disorder (MIM:613861) and epilepsy, carrying compound heterozygous variants in DHDDS. Therefore selected 'both monoallelic and biallelic' MOI.
Early onset or syndromic epilepsy v0.1525 DHDDS Rebecca Foulger Mode of inheritance for gene: DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1524 DHDDS Rebecca Foulger commented on gene: DHDDS: Sabry et al (PMID:27343064) report a patient with DHDDS deficiency and epilepsy amongst his phenotypes. The patient died at 8 months during a status epilepticus. The patient was compound heterozygous for variants in the DHDDS gene. The patient is also homozygous for the c.911 T>C (p.F304S) ALG6 variant that occurs in about one third of the population and does not cause CDG (but is a disease modifier to exacerbate symptoms in patients with glycosylation pathway defects).
Early onset or syndromic epilepsy v0.1524 DHDDS Rebecca Foulger gene: DHDDS was added
gene: DHDDS was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 27343064; 29100083
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb; 613861
Review for gene: DHDDS was set to GREEN
Added comment: In 5 unrelated patients with developmental delay and seizures with or without movement abnormalities (DEDSM; 617836), Hamdan et al. (2017, PMID:29100083) identified 2 different de novo heterozygous missense mutations in the DHDDS gene (R37H and R211Q). These five individuals with de novo variants in DHDDS presented with a generalized epilepsy disorder with myoclonic seizures, either as myoclonic absences or as isolated cortical myoclonus, and sometimes with light sensitivity or fever susceptibility. Two of these individuals also presented with other generalized seizure types, including atonic seizures or generalized tonic-clonic seizures. In three individuals, EEG revealed clear generalized spike-wave discharges (and additional photosensitivity in one individual).
Sources: Literature