13 Apr 2023
Early onset or syndromic epilepsy v4.11
PDHX
Arina Puzriakova Phenotypes for gene: PDHX were changed from Lacticacidemia due to PDX1 deficiency 245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
06 Aug 2019
Early onset or syndromic epilepsy v1.191
PDHX
Rebecca Foulger Source Wessex and West Midlands GLH was added to PDHX.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PDHX
Rebecca Foulger Source NHS GMS was added to PDHX.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PDHX
Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
PDHX
Tracy Lester reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087164; Phenotypes: Lacticacidemia due to PDX1 deficiency, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Nov 2018
Early onset or syndromic epilepsy v0.1017
PDHX
Eleanor Williams Marked gene: PDHX as ready
20 Nov 2018
Early onset or syndromic epilepsy v0.1017
PDHX
Eleanor Williams Added comment: Comment when marking as ready: Sufficient variants to associate with disorder. At least 3 cases where seizures are part of the phenotype.
20 Nov 2018
Early onset or syndromic epilepsy v0.1017
PDHX
Eleanor Williams Gene: pdhx has been classified as Green List (High Evidence).
20 Nov 2018
Early onset or syndromic epilepsy v0.1017
PDHX
Eleanor Williams Phenotypes for gene: PDHX were changed from to Lacticacidemia due to PDX1 deficiency 245349
20 Nov 2018
Early onset or syndromic epilepsy v0.1016
PDHX
Eleanor Williams Publications for gene: PDHX were set to
20 Nov 2018
Early onset or syndromic epilepsy v0.1015
PDHX
Eleanor Williams Mode of inheritance for gene: PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Nov 2018
Early onset or syndromic epilepsy v0.1014
PDHX
Eleanor Williams Classified gene: PDHX as Green List (high evidence)
20 Nov 2018
Early onset or syndromic epilepsy v0.1014
PDHX
Eleanor Williams Added comment: Comment on list classification: Numerous variants in this gene associated with Lacticacidemia are reported. 3 cases where seizures are part of the phenotype.
20 Nov 2018
Early onset or syndromic epilepsy v0.1014
PDHX
Eleanor Williams Gene: pdhx has been classified as Green List (High Evidence).
20 Nov 2018
Early onset or syndromic epilepsy v0.1013
PDHX
Eleanor Williams commented on gene: PDHX
18 Aug 2018
Early onset or syndromic epilepsy
PDHX
Zornitza Stark reviewed gene: PDHX
25 Jun 2018
Early onset or syndromic epilepsy
PDHX
Sarah Leigh Added gene to panel