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Hereditary neuropathy or pain disorder v6.148 TWNK Sarah Leigh Tag Q3_24_promote_green was removed from gene: TWNK.
Tag Q3_24_NHS_review was removed from gene: TWNK.
Hereditary neuropathy or pain disorder v6.148 TWNK Sarah Leigh reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 TWNK Sarah Leigh Source Expert Review Green was added to TWNK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.118 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Hereditary neuropathy or pain disorder v6.117 TWNK Arina Puzriakova Publications for gene: TWNK were set to
Hereditary neuropathy or pain disorder v6.116 TWNK Arina Puzriakova Classified gene: TWNK as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.116 TWNK Arina Puzriakova Added comment: Comment on list classification: TWNK is associated with multiple phenotypes that feature peripheral neuropathy (Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)) - sufficient cases with dominant and recessive forms of disease to support the association.

The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.116 TWNK Arina Puzriakova Gene: twnk has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.115 TWNK Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: TWNK.
Tag Q3_24_NHS_review tag was added to gene: TWNK.
Hereditary neuropathy or pain disorder v5.19 TWNK Alexander Rossor edited their review of gene: TWNK: Added comment: Multiple reports of variants cuasing peripheral neuropathy and should be included in R78; Changed publications to: 37932750: 32281099: 32234020: 24061067: 20880070 :
Hereditary neuropathy or pain disorder v1.81 TWNK Arina Puzriakova Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.86 TWNK Louise Daugherty commented on gene: TWNK: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: mitochondrial, comment that neuropathy is not common
Hereditary neuropathy or pain disorder v0.84 TWNK Louise Daugherty commented on gene: TWNK: 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 v0.83 TWNK Louise Daugherty Source Expert Review Amber was added to TWNK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.1 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy