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Cutaneous photosensitivity with a likely genetic cause

Gene: HMBS

Amber List (moderate evidence)
HMBS (hydroxymethylbilane synthase)
EnsemblGeneIds (GRCh38): ENSG00000256269
EnsemblGeneIds (GRCh37): ENSG00000256269
OMIM: 609806, Gene2Phenotype
HMBS is in 13 panels

7 reviews

Sarah Leigh (Genomics England Curator)

Based on review from Sharon Whatley (International Porphyria Network), changed MOI from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Created: 24 Apr 2025, 12:29 p.m. | Last Modified: 24 Apr 2025, 12:29 p.m.
Panel Version: 3.9
Created: 24 Apr 2025, 12:25 p.m.
Last Modified: 24 Apr 2025, 12:25 p.m.
Panel version: 3.9

Sharon Whatley (International Porphyria Network)

Red List (low evidence)

PMID: 6962637 Wetterberg Acute intermittent porphyria is an autosomal dominant condition caused by the inheritance of a pathogenic variant in the HMBS gene. It is the commonest of the acute porphyrias. Acute neurovisceral attacks are the main presenting clinical manifestation, photosensitivity does not occur, neither has photosensitivity been recorded in the very rare biallelic form of HMBS deficiency.
This gene should not be included in a photosensitivity panel.
Created: 4 Apr 2025, 3:30 p.m. | Last Modified: 4 Apr 2025, 3:30 p.m.
Panel Version: 3.5

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
176000; 620711; 620704

Publications

Created: 4 Apr 2025, 3:30 p.m.
Last Modified: 4 Apr 2025, 3:30 p.m.
Panel version: 3.5

Arina Puzriakova (Genomics England Curator)

I don't know

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
Created: 31 Jan 2023, 2:08 p.m.
Last Modified: 31 Jan 2023, 2:08 p.m.
Panel version: 2.3

Eleanor Williams (Genomics England Curator)

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
Created: 5 Oct 2022, 10:53 p.m.
Last Modified: 5 Oct 2022, 10:53 p.m.
Panel version: 1.10

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
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

Created: 22 Jul 2020, 3:21 a.m.
Last Modified: 22 Jul 2020, 3:21 a.m.
Panel version: 1.3

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
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
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review
Phenotypes
  • Porphyria, acute intermittent, OMIM:176000
  • Porphyria, acute intermittent, nonerythroid variant, OMIM:176000
  • Leukoencephalopathy, porphyria-related OMIM:620711
  • leukoencephalopathy, porphyria-related, MONDO:0958226
  • Encephalopathy, porphyria-related, OMIM:620704
  • encephalopathy, porphyria-related, MONDO:0958224
OMIM
609806
Clinvar variants
Variants in HMBS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 to Porphyria, acute intermittent, OMIM:176000; Porphyria, acute intermittent, nonerythroid variant, OMIM:176000; Leukoencephalopathy, porphyria-related OMIM:620711; leukoencephalopathy, porphyria-related, MONDO:0958226; Encephalopathy, porphyria-related, OMIM:620704; encephalopathy, porphyria-related, MONDO:0958224

24 Apr 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 to Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000

24 Apr 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HMBS were set to

24 Apr 2025, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

31 Jan 2023, Gel status: 2

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: HMBS. Tag Q3_22_expert_review was removed from gene: HMBS.

31 Jan 2023, Gel status: 2

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

5 Oct 2022, Gel status: 3

Removed Tag, Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

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.

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