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Hereditary neuropathy or pain disorder v7.29 HMBS Arina Puzriakova Tag Q2_25_expert_review was removed from gene: HMBS.
Hereditary neuropathy or pain disorder v6.168 HMBS Sarah Leigh Tag Q2_25_expert_review tag was added to gene: HMBS.
Hereditary neuropathy or pain disorder v6.168 HMBS Sarah Leigh Tag Q2_25_ MOI tag was added to gene: HMBS.
Hereditary neuropathy or pain disorder v6.168 HMBS Sarah Leigh edited their review of gene: HMBS: Added comment: Based on review from Sharon Whatley (International Porphyria Network), the mode of inheritance of HMBS should be changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal on this panel - Hereditary neuropathy or pain disorder.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.168 HMBS Sarah Leigh Added comment: Comment on publications: Publications suggested by Sharon Whatley (International Porphyria Network): 27539938; 38940544; 35584894; 14262853; 1577472; 15534187; 31153822; 14970743; 34089223; 27558376
Hereditary neuropathy or pain disorder v6.168 HMBS Sarah Leigh Publications for gene: HMBS were set to 27558376; 34089223
Hereditary neuropathy or pain disorder v6.165 HMBS Sharon Whatley reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 27539938, 38940544, 35584894, 14262853, 1577472, 15534187, 31153822, 14970743, 34089223, 27558376; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 HMBS Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: HMBS.
Hereditary neuropathy or pain disorder v5.16 HMBS Achchuthan Shanmugasundram commented on gene: HMBS: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.15 HMBS Achchuthan Shanmugasundram Mode of inheritance for gene HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.82 HMBS Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available (three unrelated families) for the association of biallelic HMBS variants with peripheral neuropathy. Hence, the MOI should be updated from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.
Hereditary neuropathy or pain disorder v3.82 HMBS Achchuthan Shanmugasundram Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.81 HMBS Achchuthan Shanmugasundram Phenotypes for gene: HMBS were changed from AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, OMIM:76000; Porphyria, acute intermittent, nonerythroid variant, OMIM:176000; Leukoencephalopathy, HP:0002352; hereditary peripheral neuropathy, MONDO:0020127
Hereditary neuropathy or pain disorder v3.80 HMBS Achchuthan Shanmugasundram edited their review of gene: HMBS: Changed phenotypes to: Porphyria, acute intermittent, OMIM:76000, Porphyria, acute intermittent, nonerythroid variant, OMIM:176000, Leukoencephalopathy, HP:0002352, hereditary peripheral neuropathy, MONDO:0020127
Hereditary neuropathy or pain disorder v3.80 HMBS Achchuthan Shanmugasundram Publications for gene: HMBS were set to
Hereditary neuropathy or pain disorder v3.79 HMBS Achchuthan Shanmugasundram Tag Q1_24_MOI tag was added to gene: HMBS.
Hereditary neuropathy or pain disorder v3.79 HMBS Achchuthan Shanmugasundram reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27558376, 34089223; Phenotypes: Leukoencephalopathy, HP:0002352, hereditary peripheral neuropathy, MONDO:0020127; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.91 HMBS Louise Daugherty edited their review of gene: HMBS: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.73 HMBS Louise Daugherty commented on gene: HMBS: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - acute intermittent porphyria As per CPOX usually presents more acutely but management implications. Promote to Green as management implications
Hereditary neuropathy or pain disorder v0.73 HMBS Louise Daugherty Classified gene: HMBS as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.73 HMBS 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 v0.73 HMBS Louise Daugherty Gene: hmbs has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.1 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000