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Hereditary Neuropathy - complex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neuropathy is a classic feature of AIP.
Created: 24 Jul 2023, 9:23 a.m. | Last Modified: 24 Jul 2023, 9:23 a.m.
Panel Version: 0.191

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porphyria, acute intermittent MIM#176000; MONDO:0008294

Publications

Created: 24 Jul 2023, 9:23 a.m.
Last Modified: 24 Jul 2023, 9:23 a.m.
Panel version: 0.191

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Neuropathy as a clinical feature with confirmed genetic result has not been reported in literature. Mouse study has been conducted indicating neuropathy can be a feature of AIP.

PMID: 20301372
Peripheral neuropathy is a feature of acute intermittent porphyria (AIP).
Typically seen in “overt AIP” individuals - those who are heterozygous and/or symptomatic

PMID: 8563760
Mice study that showed in the presence of decreased AIP, decreased motor function and histopathological findings were evident in the mice.
Created: 13 Jul 2023, 11:15 p.m. | Last Modified: 13 Jul 2023, 11:15 p.m.
Panel Version: 0.169

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Porphyria, acute intermittent MIM#176000; MONDO:0008294

Publications

Created: 13 Jul 2023, 11:15 p.m.
Last Modified: 13 Jul 2023, 11:15 p.m.
Panel version: 0.169

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria, acute intermittent MIM#176000
  • MONDO:0008294
OMIM
609806
Clinvar variants
Variants in HMBS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMBS were changed from Acute intermittent porphyria; dHMN/dSMA to Porphyria, acute intermittent MIM#176000; MONDO:0008294

24 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMBS were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HMBS was added gene: HMBS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HMBS were set to Acute intermittent porphyria; dHMN/dSMA