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| Mitochondrial disorders v3.6 | SSBP1 | Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.6 | SSBP1 | Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.5 | 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 disorders v2.78 | SSBP1 | Sarah Leigh Tag Q1_22_MOI was removed from gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.78 | SSBP1 |
Sarah Leigh edited their review of gene: SSBP1: Added comment: Associated with relevant phenotype in OMIM, but not associated with a phenotype in Gen2Phen. SSBP1 is involved in mitochondrial biogenesis (PMID: 7789991) and variants in it are associated with mtDNA maintenance defects and mitochondrial disease. At least six heterozygous SSBP1 variants have been reported and two biallelic cases have also been reported; c.380G>A p.(Arg127Gln)(MAF of 0.00004) was found with c.394A>G p.(Ile132Val)(PMID: 34905022), which had previously been found as a homozygote in a single case (PMID: 31550240).; Changed rating: GREEN |
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| Mitochondrial disorders v2.78 | SSBP1 | Sarah Leigh Classified gene: SSBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.78 | SSBP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.78 | SSBP1 | Sarah Leigh Gene: ssbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.77 | SSBP1 |
Sarah Leigh Tag Q1_22_rating tag was added to gene: SSBP1. Tag Q1_22_MOI tag was added to gene: SSBP1. |
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| Mitochondrial disorders v2.77 | SSBP1 | Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34905022 reports a case of SSBP1-disease with biallelic SSBP1 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.77 | SSBP1 | Sarah Leigh Mode of inheritance for gene: SSBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.76 | SSBP1 | Sarah Leigh Mode of inheritance for gene: SSBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.75 | SSBP1 | Sarah Leigh Phenotypes for gene: SSBP1 were changed from No OMIM phenotype to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.74 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to 29182774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SSBP1 | Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31298765, 31479473, 31550237, 31550240; Phenotypes: Optic atrophy with or without extraocular phenotypes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.412 | SSBP1 | Sarah Leigh reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.411 | SSBP1 |
Sarah Leigh gene: SSBP1 was added gene: SSBP1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SSBP1 was set to Unknown Publications for gene: SSBP1 were set to 29182774 Phenotypes for gene: SSBP1 were set to No OMIM phenotype |
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