This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
Gene: HMBS
HMBS (hydroxymethylbilane synthase)
EnsemblGeneIds (GRCh38): ENSG00000256269
EnsemblGeneIds (GRCh37): ENSG00000256269
OMIM: 609806, Gene2Phenotype
HMBS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000256269
EnsemblGeneIds (GRCh37): ENSG00000256269
OMIM: 609806, Gene2Phenotype
HMBS is in 13 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609806
- Clinvar variants
- Variants in HMBS
- Penetrance
- None
- Panels with this gene
-
- Non-acute porphyrias
- Acute intermittent porphyria
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Cutaneous photosensitivity with a likely genetic cause
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)HMBS was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)HMBS was created by Sarah Leigh