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Undiagnosed metabolic disorders

Gene: HMBS

Green List (high evidence)

HMBS (hydroxymethylbilane synthase)
EnsemblGeneIds (GRCh38): ENSG00000256269
EnsemblGeneIds (GRCh37): ENSG00000256269
OMIM: 609806, Gene2Phenotype
HMBS is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

HMBS is the third enzyme of the biosynthetic pathway leading to the production of heme. >3 unrelated cases from multiple populations providing gene:disease association. Plus animal model.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acute intermittent porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute intermittent, 176000
  • Porphyria, acute intermittent, nonerythroid variant, 176000
OMIM
609806
Clinvar variants
Variants in HMBS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

HMBS was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HMBS was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HMBS was created by sleigh