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Non-acute porphyrias v1.34 HMBS Ida Ertmanska Tag to_be_confirmed_NHSE was removed from gene: HMBS.
Non-acute porphyrias v1.34 HMBS Ida Ertmanska Added comment: Comment on mode of inheritance: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green. GMS reviewers note that this panel is used for biochemically undiagnosed porphyria - acute and non-acute. The MOI was updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as suggested by the NHS Genomic Medicine Service.
Non-acute porphyrias v1.34 HMBS Ida Ertmanska Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Non-acute porphyrias v1.33 HMBS Ida Ertmanska commented on gene: HMBS: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before changing the mode of inheritance.
Non-acute porphyrias v1.33 HMBS Ida Ertmanska Tag to_be_confirmed_NHSE tag was added to gene: HMBS.
Non-acute porphyrias v1.33 HMBS Ida Ertmanska Tag Q2_25_ demote_red was removed from gene: HMBS.
Tag Q2_25_ MOI was removed from gene: HMBS.
Tag Q2_25_expert_review was removed from gene: HMBS.
Non-acute porphyrias v1.33 HMBS Ida Ertmanska commented on gene: HMBS
Non-acute porphyrias v1.29 HMBS Sharon Whatley commented on gene: HMBS: Update 23/10/2025:
The relevance of the biallelic form of HMBS was discussed at the IPNET (International Porphyria Network) laboratory working group. According to the IPNET definition of acute intermittent porphyria, the biallelic form also meets the definition of an acute porphyria rather than the non-acute. In a clinical context these patients would be investigated using a symptomatic panel. We would recommend that HMBS is not part of the non-acute porphyria panel.
Non-acute porphyrias v1.26 HMBS Arina Puzriakova commented on gene: HMBS
Non-acute porphyrias v1.26 HMBS Sarah Leigh Tag Q2_25_ demote_red tag was added to gene: HMBS.
Tag Q2_25_ MOI tag was added to gene: HMBS.
Tag Q2_25_expert_review tag was added to gene: HMBS.
Non-acute porphyrias v1.26 HMBS Sarah Leigh reviewed gene: HMBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Non-acute porphyrias v1.26 HMBS Sarah Leigh Publications for gene: HMBS were set to 27604308; 2511016; 1714233
Non-acute porphyrias v1.25 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294 to Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294; Leukoencephalopathy, porphyria-related OMIM:620711; leukoencephalopathy, porphyria-related, MONDO:0958226; Encephalopathy, porphyria-related, OMIM:620704; encephalopathy, porphyria-related, MONDO:0958224
Non-acute porphyrias v1.24 HMBS Sharon Whatley reviewed gene: HMBS: Rating: RED; Mode of pathogenicity: None; Publications: 37540847, 14262853, 1577472, 15534187, 14970743, 27558376, 31153822, 34089223; Phenotypes: 176000, 620711, 620704; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Non-acute porphyrias v1.15 HMBS Sarah Leigh Publications for gene: HMBS were set to 27604308
Non-acute porphyrias v1.14 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294
Non-acute porphyrias v0.11 HMBS Ivone Leong Marked gene: HMBS as ready
Non-acute porphyrias v0.11 HMBS Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 HMBS Ivone Leong Gene: hmbs has been classified as Green List (High Evidence).
Non-acute porphyrias v0.7 HMBS Ivone Leong Source Other was added to HMBS.
Mode of inheritance for gene HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 for gene: HMBS
Publications for gene HMBS were changed from to 27604308
Non-acute porphyrias v0.4 HMBS Ivone Leong Source Expert Review Green was added to HMBS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.3 HMBS Ivone Leong reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.2 HMBS Ivone Leong gene: HMBS was added
gene: HMBS was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: HMBS was set to