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Hereditary neuropathy or pain disorder v3.60 | DRP2 | Eleanor Williams Tag gene-checked tag was added to gene: DRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.60 | DRP2 | Eleanor Williams commented on gene: DRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.58 | DRP2 | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: DRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.58 | DRP2 | Sarah Leigh reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.57 | DRP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DRP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hereditary neuropathy or pain disorder v3.15 | DRP2 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: DRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.15 | DRP2 | Achchuthan Shanmugasundram Classified gene: DRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.15 | DRP2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is sufficient evidence (3 unrelated cases and functional studies) for this gene to be promoted to GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.15 | DRP2 | Achchuthan Shanmugasundram Gene: drp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.14 | DRP2 | Achchuthan Shanmugasundram Publications for gene: DRP2 were set to 26227883; 29473052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v3.13 | DRP2 | Achchuthan Shanmugasundram reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22764250, 26227883, 29473052, 31217940; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v1.4 | DRP2 | Zornitza Stark reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26227883, 11430802, 31217940, 22764250, 29473052; Phenotypes: X-linked Charcot-Marie-Tooth; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v0.36 | DRP2 | Louise Daugherty commented on gene: DRP2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? 2 cases but functional studies don't show features of neuropathy - Amber? More evidence needed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v0.11 | DRP2 | Louise Daugherty Classified gene: DRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v0.11 | DRP2 | Louise Daugherty Added comment: Comment on list classification: 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 v0.11 | DRP2 | Louise Daugherty Gene: drp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v0.1 | DRP2 |
Ellen McDonagh gene: DRP2 was added gene: DRP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DRP2 were set to 26227883; 29473052 |