Inherited white matter disorders

Gene: HMBS

Red List (low evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note that while heterozygous variants in this gene cause acute intermittent porphyria, bi-allelic variants can cause paediatric onset leukoencephalopathy. Consider Amber if not Green.
Created: 24 Jul 2018, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


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

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hmbs has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

HMBS was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0


Zornitza Stark (Australian Genomics)

HMBS was created by Zornitza Stark