Non-acute porphyrias
Gene: HMBS
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.Created: 24 Jan 2019, 4:21 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: HMBS; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 3:53 p.m.
HMBS is the third enzyme of the biosynthetic pathway leading to the production of heme. >3 unrelated cases from multiple populations providing gene:disease association. Plus animal model.Created: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000
Publications
Publications for gene: HMBS were set to 27604308
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
Gene: hmbs has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to HMBS. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HMBS was added gene: HMBS was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: HMBS was set to