Leukodystrophy - paediatric
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated families reported. Note in one family (PMID: 26925370), one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.Created: 18 Mar 2020, 1:42 a.m. | Last Modified: 13 Apr 2020, 7:55 a.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Australian Genomcis Health Alliance Leukodystrophy Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Succinate dehydrogenase-deficient leukoencephalopathy
- Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224
- Complex II deficiency
- mitochondrial leucoencephalopathy
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Gastrointestinal Stromal Tumour
- Paraganglioma_phaeochromocytoma
- Incidentalome
- Additional findings_Adult
- Leukodystrophy - paediatric
- Kidney Cancer
- Additional findings_Paediatric
- Incidentalome_PREGEN_DRAFT
- Pituitary Tumour
- BabyScreen+ newborn screening
- Mitochondrial disease
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdhb has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SDHB were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SDHB were changed from Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SDHB was added gene: SDHB was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHB were set to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency