Mitochondrial disease
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, 1:28 a.m. | Last Modified: 13 Apr 2020, 7:53 a.m.
Panel Version: 0.355
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
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Phenotypes
-
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SDHB were changed from Complex II deficiency; mitochondrial leucoencephalopathy to Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SDHB were set to 22972948; 26925370
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdhb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdhb has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SDHB were changed from to Complex II deficiency; mitochondrial leucoencephalopathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SDHB were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdhb has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SDHB was added gene: SDHB was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SDHB was set to Unknown