Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.195 | PGBD5 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Karen Stals, there are ten patients from five unrelated families reported with biallelic PGBD5 variants and neurodevelopmental disorder. Epilepsy was reported in nine of these ten patients. There is also functional evidence available in support of the association. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Karen Stals, there are ten patients from five unrelated families reported with biallelic PGBD5 variants and neurodevelopmental disorder. Epilepsy was reported in nine of these ten patients. There is also functional evidence available in support of the association. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.195 | PGBD5 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Karen Stals, there are ten patients from five unrelated families reported with biallelic PGBD5 variants and a neurodevelopmental disorder. Epilepsy was reported in nine of these ten patients. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Karen Stals, there are ten patients from five unrelated families reported with biallelic PGBD5 variants and neurodevelopmental disorder. Epilepsy was reported in nine of these ten patients. There is also functional evidence available in support of the association. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.195 | PGBD5 | Achchuthan Shanmugasundram Classified gene: PGBD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.195 | PGBD5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Karen Stals, there are ten patients from five unrelated families reported with biallelic PGBD5 variants and a neurodevelopmental disorder. Epilepsy was reported in nine of these ten patients. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.195 | PGBD5 | Achchuthan Shanmugasundram Gene: pgbd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.194 | PGBD5 |
Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: PGBD5. Tag Q2_26_NHS_review tag was added to gene: PGBD5. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.194 | PGBD5 | Achchuthan Shanmugasundram Phenotypes for gene: PGBD5 were changed from Seizures; global developmental delay; spasticity; hypotonia to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482; neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.193 | PGBD5 | Achchuthan Shanmugasundram Publications for gene: PGBD5 were set to PMID: 41533792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.192 | PGBD5 | Achchuthan Shanmugasundram reviewed gene: PGBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41533792; Phenotypes: Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482, neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.187 | PGBD5 |
Karen Stals gene: PGBD5 was added gene: PGBD5 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGBD5 were set to PMID: 41533792 Phenotypes for gene: PGBD5 were set to Seizures; global developmental delay; spasticity; hypotonia Penetrance for gene: PGBD5 were set to Complete Review for gene: PGBD5 was set to GREEN gene: PGBD5 was marked as current diagnostic Added comment: Zapater et al. 2026 PMID:41533792 report 5 families with homozygous loss of function variants in PGBD5 co-segregating in two affected siblings in each family (variants identified via whole exome sequencing). Authors show that PGBD5 contributes to normal brain development in mice and humans. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||