Cutaneous photosensitivity with a likely genetic cause

Gene: HMBS

Green List (high evidence)

HMBS (hydroxymethylbilane synthase)
EnsemblGeneIds (GRCh38): ENSG00000256269
EnsemblGeneIds (GRCh37): ENSG00000256269
OMIM: 609806, Gene2Phenotype
HMBS is in 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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

Catherine Snow (Genomics England)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria, acute intermittent, 176000
  • Acute intermittent porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute intermittent, nonerythroid variant, 176000
Tags
Q3_21_expert_review
OMIM
609806
Clinvar variants
Variants in HMBS
Penetrance
None
Panels with this gene

History Filter Activity

12 Jul 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_expert_review tag was added to gene: HMBS.

2 Dec 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

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)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

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