| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial DNA maintenance disorder v2.3 | SSBP1 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SSBP1. Tag Q3_22_NHS_review was removed from gene: SSBP1. |
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| Mitochondrial DNA maintenance disorder v2.3 | SSBP1 | Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v2.2 | SSBP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SSBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial DNA maintenance disorder v1.19 | SSBP1 | Arina Puzriakova Classified gene: SSBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.19 | SSBP1 | Arina Puzriakova Gene: ssbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.18 | SSBP1 | Arina Puzriakova Publications for gene: SSBP1 were set to 29182774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.17 | SSBP1 | Arina Puzriakova Phenotypes for gene: SSBP1 were changed from No OMIM phenotype to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.14 | SSBP1 | Arina Puzriakova commented on gene: SSBP1: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. MOI has also been updated from unknown to both mono- and biallelic inline with this review. Carl Fratter mentions additional cases have been seen within NHS GMS (not published). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.13 | SSBP1 | Arina Puzriakova reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34905022, 31550240, 31550237, 31298765, 31479473; Phenotypes: Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.12 | SSBP1 | Arina Puzriakova Mode of pathogenicity for gene: SSBP1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.11 | SSBP1 | Arina Puzriakova Mode of inheritance for gene: SSBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.10 | SSBP1 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: SSBP1. Tag Q3_22_NHS_review tag was added to gene: SSBP1. |
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| Mitochondrial DNA maintenance disorder v1.0 | SSBP1 | Carl Fratter reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31298765, 31550240; Phenotypes: optic atrophy, optic atrophy with additional features (including retinal degeneration); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.10 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Marked gene: SSBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Gene: ssbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Classified gene: SSBP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel as there is currently insufficient evidence in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Gene: ssbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.3 | SSBP1 | Ivone Leong reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.2 | SSBP1 |
Ivone Leong gene: SSBP1 was added gene: SSBP1 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: SSBP1 was set to Unknown Phenotypes for gene: SSBP1 were set to No OMIM phenotype |
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