Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Early onset or syndromic epilepsy v4.152 PRODH Arina Puzriakova Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I, OMIM; 239500; hyperprolinemia type 1, MONDO:0009400 to Hyperprolinemia, type I, OMIM:239500; hyperprolinemia type 1, MONDO:0009400
Early onset or syndromic epilepsy v2.524 PRODH Sarah Leigh commented on gene: PRODH: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).
Early onset or syndromic epilepsy v2.524 PRODH Sarah Leigh Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I 239500 to Hyperprolinemia, type I, OMIM; 239500; hyperprolinemia type 1, MONDO:0009400
Early onset or syndromic epilepsy v1.454 PRODH Rebecca Foulger Classified gene: PRODH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.454 PRODH Rebecca Foulger Gene: prodh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.453 PRODH Rebecca Foulger commented on gene: PRODH: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.420 PRODH Rebecca Foulger Publications for gene: PRODH were set to 12217952
Early onset or syndromic epilepsy v1.419 PRODH Rebecca Foulger commented on gene: PRODH: PMID:17412540 (Afenjar et al 2007) report 4 unrelated children and biallelic variants in PRODH. The authors note that 4 previous patients had been reported (Jacquet et al, 2002, 2003 and Raux et al 2007) and of the 8 total patients, 5 had epilepsy (plus febrile case), often severe with status epilepticus.
Early onset or syndromic epilepsy v1.419 PRODH Rebecca Foulger commented on gene: PRODH: PMID:18197084 (Di Rosa et al., 2008) screened 4 unrelated Italian children all of whom presented with epilepsy and ID, and compound het/homozygous variants in PRODH. Functional tests to confirm the pathogenicity were not performed.
Early onset or syndromic epilepsy v1.419 PRODH Rebecca Foulger Publications for gene: PRODH were set to
Early onset or syndromic epilepsy v1.191 PRODH Rebecca Foulger Source Wessex and West Midlands GLH was added to PRODH.
Early onset or syndromic epilepsy v1.190 PRODH Rebecca Foulger Source NHS GMS was added to PRODH.
Early onset or syndromic epilepsy v1.189 PRODH Rebecca Foulger reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PRODH Tracy Lester reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: 12217952, ; Phenotypes: Hyperprolinemia, type I, 239500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy PRODH Sarah Leigh Added gene to panel