| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.583 | SDHB | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.582 | SDHB | Zornitza Stark edited their review of gene: SDHB: Changed phenotypes: Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224, Complex II deficiency, mitochondrial leucoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.355 | SDHB | Zornitza Stark changed review comment from: Four unrelated families reported. Note in one family, 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.355 | SDHB | Zornitza Stark Publications for gene: SDHB were set to 22972948; 26925370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.354 | SDHB | Zornitza Stark Classified gene: SDHB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.354 | SDHB | Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.353 | SDHB | Zornitza Stark edited their review of gene: SDHB: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.353 | SDHB | Zornitza Stark changed review comment from: Two unrelated families reported. Note in second family, 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.; to: Four unrelated families reported. Note in one family, 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.353 | SDHB | Zornitza Stark edited their review of gene: SDHB: Changed publications: 22972948, 26925370, 27604842 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.167 | SDHB | Zornitza Stark Marked gene: SDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.167 | SDHB | Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.167 | SDHB | Zornitza Stark Phenotypes for gene: SDHB were changed from to Complex II deficiency; mitochondrial leucoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.166 | SDHB | Zornitza Stark Publications for gene: SDHB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.165 | SDHB | Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.164 | SDHB | Zornitza Stark Classified gene: SDHB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.164 | SDHB | Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.163 | SDHB | Zornitza Stark reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 22972948, 26925370; Phenotypes: Complex II deficiency, mitochondrial leucoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | SDHB |
Zornitza Stark 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 |
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