Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Hereditary neuropathy or pain disorder v6.148 PDHA1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: PDHA1.
Tag Q3_24_NHS_review was removed from gene: PDHA1.
Hereditary neuropathy or pain disorder v6.148 PDHA1 Sarah Leigh reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v6.147 PDHA1 Sarah Leigh Source Expert Review Green was added to PDHA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.93 PDHA1 Achchuthan Shanmugasundram Classified gene: PDHA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.93 PDHA1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there is sufficient evidence available for the association of this gene with syndromic neuropathy and hence this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v5.93 PDHA1 Achchuthan Shanmugasundram Gene: pdha1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.92 PDHA1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: PDHA1.
Hereditary neuropathy or pain disorder v5.92 PDHA1 Achchuthan Shanmugasundram Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency, OMIM:312170
Hereditary neuropathy or pain disorder v5.91 PDHA1 Achchuthan Shanmugasundram Publications for gene: PDHA1 were set to
Hereditary neuropathy or pain disorder v5.90 PDHA1 Achchuthan Shanmugasundram Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v5.89 PDHA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PDHA1.
Hereditary neuropathy or pain disorder v5.89 PDHA1 Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33661577, 36693417, 38497591; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v5.19 PDHA1 Alexander Rossor edited their review of gene: PDHA1: Added comment: PN in multiple unrelated individuals and therefore should be includedin R78 panel; Changed rating: GREEN; Changed publications to: 38497591: 36693417: 20002125; Changed phenotypes to: peripheral neuropathy, Leigh syndrome
Hereditary neuropathy or pain disorder v0.63 PDHA1 Louise Daugherty commented on gene: PDHA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.61 PDHA1 Louise Daugherty Classified gene: PDHA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.61 PDHA1 Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.61 PDHA1 Louise Daugherty Gene: pdha1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females