Cutaneous photosensitivity with a likely genetic cause
Gene: HMBS
The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:08 p.m. | Last Modified: 31 Jan 2023, 2:08 p.m.
Panel Version: 2.3
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 10:53 p.m. | Last Modified: 5 Oct 2022, 10:53 p.m.
Panel Version: 1.10
Could not find any evidence of photosensitivity in affected patients. This gene will be referred to GMS specialist panel for review.Created: 12 Jul 2021, 2:29 p.m. | Last Modified: 12 Jul 2021, 2:29 p.m.
Panel Version: 1.8
Not convinced that photosensitivity is a feature of this particular porphyria.Created: 22 Jul 2020, 3:21 a.m. | Last Modified: 22 Jul 2020, 3:21 a.m.
Panel Version: 1.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent (MIM#176000)
Publications
Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.10
Tag Q3_22_rating was removed from gene: HMBS. Tag Q3_22_expert_review was removed from gene: HMBS.
Source NHS GMS was added to HMBS. Source Expert Review Amber was added to HMBS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_expert_review was removed from gene: HMBS. Tag Q3_22_rating tag was added to gene: HMBS. Tag Q3_22_expert_review tag was added to gene: HMBS.
Tag Q3_21_expert_review tag was added to gene: HMBS.
Source Expert Review Green was added to HMBS. Added phenotypes Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HMBS was added gene: HMBS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HMBS were set to Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000