| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex II deficiency v2.5 | SDHB | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v2.5 | SDHB | Achchuthan Shanmugasundram commented on gene: SDHB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v1.11 | SDHB |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SDHB. Tag Q3_22_NHS_review was removed from gene: SDHB. |
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| Mitochondrial disorder with complex II deficiency v1.11 | SDHB | Achchuthan Shanmugasundram reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v1.10 | SDHB |
Achchuthan Shanmugasundram Source Expert Review Green was added to SDHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorder with complex II deficiency v1.7 | SDHB | Arina Puzriakova Phenotypes for gene: SDHB were changed from No OMIM phenotype to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v1.6 | SDHB | Arina Puzriakova Publications for gene: SDHB were set to 22972948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v1.4 | SDHB | Arina Puzriakova reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948, 32124427, 26925370, 27604842; Phenotypes: Mitochondrial complex II deficiency, nuclear type 4, OMIM: 619224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v1.3 | SDHB |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: SDHB. Tag Q3_22_NHS_review tag was added to gene: SDHB. |
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| Mitochondrial disorder with complex II deficiency v0.17 | SDHB | Ivone Leong changed review comment from: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFA11; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.; to: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SDHB; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.14 | SDHB | Ellen McDonagh Marked gene: SDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.14 | SDHB | Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.14 | SDHB | Ellen McDonagh Gene: sdhb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.12 | SDHB | Carl Fratter reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.10 | SDHB | Anna de Burca Classified gene: SDHB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.10 | SDHB | Anna de Burca Gene: sdhb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.3 | SDHB | Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.2 | SDHB |
Ivone Leong gene: SDHB was added gene: SDHB was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHB were set to 22972948 Phenotypes for gene: SDHB were set to No OMIM phenotype |
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