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Leukodystrophy - paediatric
Gene: HMBS

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)

White matter abnormalities can be a rare feature, especially of recessive disease.
Created: 31 Jan 2023, 6:35 a.m. | Last Modified: 31 Jan 2023, 6:35 a.m.

Panel Version: 0.279

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, porphyria-related, MIM# 620711

Publications

Created: 31 Jan 2023, 6:35 a.m.
Last Modified: 31 Jan 2023, 6:35 a.m.
Panel version: 0.304

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Compound heterozygous variants segregate in three affected individuals in a single family.
Created: 18 Jan 2020, 8:24 a.m. | Last Modified: 18 Jan 2020, 8:24 a.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 18 Jan 2020, 8:24 a.m.
Last Modified: 18 Jan 2020, 8:24 a.m.
Panel version: 0.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Leukoencephalopathy, porphyria-related, MIM# 620711

OMIM

Clinvar variants

Variants in HMBS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Feb 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, MIM#176000; Acute intermittent porphyria-related leukoencephalopathy to Leukoencephalopathy, porphyria-related, MIM# 620711

31 Jan 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).

31 Jan 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMBS were set to 27558376

31 Jan 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMBS were changed from Acute intermittent porphyria-related leukoencephalopathy to Porphyria, acute intermittent, MIM#176000; Acute intermittent porphyria-related leukoencephalopathy

31 Jan 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).

18 Jan 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).

18 Jan 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 Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMBS were set to 27558376 Phenotypes for gene: HMBS were set to Acute intermittent porphyria-related leukoencephalopathy Review for gene: HMBS was set to RED