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Hereditary neuropathy or pain disorder v6.148 HADHB Sarah Leigh Tag Q3_24_promote_green was removed from gene: HADHB.
Tag Q3_24_NHS_review was removed from gene: HADHB.
Hereditary neuropathy or pain disorder v6.148 HADHB Sarah Leigh reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 HADHB Sarah Leigh Source Expert Review Green was added to HADHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.95 HADHB Achchuthan Shanmugasundram Classified gene: HADHB as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.95 HADHB Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, mitochondrial trifunctional protein deficiency 2 (MIM #620300) includes peripheral neuropathy as one of the clinical manifestations. There are more than three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.95 HADHB Achchuthan Shanmugasundram Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.94 HADHB Achchuthan Shanmugasundram Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM: 620300
Hereditary neuropathy or pain disorder v6.93 HADHB Achchuthan Shanmugasundram Publications for gene: HADHB were set to
Hereditary neuropathy or pain disorder v6.92 HADHB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HADHB.
Tag Q3_24_NHS_review tag was added to gene: HADHB.
Hereditary neuropathy or pain disorder v6.92 HADHB Achchuthan Shanmugasundram reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24664533, 28685493, 28649548, 35235001, 37388542; Phenotypes: Mitochondrial trifunctional protein deficiency 2, OMIM: 620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 HADHB Alexander Rossor edited their review of gene: HADHB: Added comment: PN well established part of phenotype. Multiple affected families. Now R78 includes complex phenotypes should be included; Changed publications to: 3744096: 28685493: 31521624: 24664533: 28649548: 35235001 : 37388542; Changed phenotypes to: rhabdomyloysis, hypoparathyroidism, peripheral neuropathy
Hereditary neuropathy or pain disorder v0.72 HADHB Louise Daugherty commented on gene: HADHB: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype - mitochondrial trifunctional protein deficiency
Hereditary neuropathy or pain disorder v0.72 HADHB Louise Daugherty Classified gene: HADHB as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.72 HADHB 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 v0.72 HADHB Louise Daugherty Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,London North GLH,Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015