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  3. HMBS
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Rhabdomyolysis and Metabolic Myopathy

Gene: HMBS

Green List (high evidence)
HMBS (hydroxymethylbilane synthase)
EnsemblGeneIds (GRCh38): ENSG00000256269
EnsemblGeneIds (GRCh37): ENSG00000256269
OMIM: 609806, Gene2Phenotype
HMBS is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Rhabdomyolysis can be a feature of acute intermittent porphyria
Created: 14 Sep 2023, 3:43 a.m. | Last Modified: 14 Sep 2023, 3:43 a.m.
Panel Version: 1.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porphyria, acute intermittent MIM#176000

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Sep 2023, 3:43 a.m.
Last Modified: 14 Sep 2023, 3:43 a.m.
Panel version: 1.0

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations.
Created: 3 May 2022, 10:34 p.m. | Last Modified: 3 May 2022, 10:34 p.m.
Panel Version: 0.13640

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porphyria, acute intermittent, MIM#176000; Porphyria, acute intermittent, non-erythroid variant, MIM#176000

Created: 3 May 2022, 10:34 p.m.
Last Modified: 3 May 2022, 10:34 p.m.
Panel version: Imported from Mendeliome panel version 0.13640

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria, acute intermittent MIM#176000
OMIM
609806
Clinvar variants
Variants in HMBS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hmbs has been classified as Green List (High Evidence).

29 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hmbs has been classified as Amber List (Moderate Evidence).

29 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hmbs has been classified as Amber List (Moderate Evidence).

29 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HMBS was added gene: HMBS was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMBS were set to 25389600; 18647325 Phenotypes for gene: HMBS were set to Porphyria, acute intermittent MIM#176000 Review for gene: HMBS was set to AMBER