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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
Early onset or syndromic epilepsy v1.191 PDHX Rebecca Foulger Source Wessex and West Midlands GLH was added to PDHX.
Early onset or syndromic epilepsy v1.190 PDHX Rebecca Foulger Source NHS GMS was added to PDHX.
Early onset or syndromic epilepsy v1.189 PDHX Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1017 PDHX Eleanor Williams Marked gene: PDHX as ready
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.
Early onset or syndromic epilepsy v0.1017 PDHX Eleanor Williams Gene: pdhx has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1017 PDHX Eleanor Williams Phenotypes for gene: PDHX were changed from to Lacticacidemia due to PDX1 deficiency 245349
Early onset or syndromic epilepsy v0.1016 PDHX Eleanor Williams Publications for gene: PDHX were set to
Early onset or syndromic epilepsy v0.1015 PDHX Eleanor Williams Mode of inheritance for gene: PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1014 PDHX Eleanor Williams Classified gene: PDHX as Green List (high evidence)
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.
Early onset or syndromic epilepsy v0.1014 PDHX Eleanor Williams Gene: pdhx has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1013 PDHX Eleanor Williams commented on gene: PDHX
Early onset or syndromic epilepsy PDHX Zornitza Stark reviewed gene: PDHX
Early onset or syndromic epilepsy PDHX Sarah Leigh Added gene to panel