Mitochondrial disorders
Gene: SSBP1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.Created: 20 Mar 2020, 5:03 a.m. | Last Modified: 20 Mar 2020, 5:03 a.m.
Panel Version: 2.5
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy with or without extraocular phenotypes
Publications
Variants in this GENE are reported as part of current diagnostic practice
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).Created: 4 Jan 2022, 5:07 p.m. | Last Modified: 4 Jan 2022, 5:07 p.m.
Panel Version: 2.78
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 4 Jan 2022, 4:26 p.m. | Last Modified: 4 Jan 2022, 4:26 p.m.
Panel Version: 2.78
Comment on mode of inheritance: PMID: 34905022 reports a case of SSBP1-disease with biallelic SSBP1 variants.Created: 4 Jan 2022, 4 p.m. | Last Modified: 4 Jan 2022, 4 p.m.
Panel Version: 2.77
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.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Tag Q1_22_rating was removed from gene: SSBP1.
Source Expert Review Green was added to SSBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_MOI was removed from gene: SSBP1.
Gene: ssbp1 has been classified as Amber List (Moderate Evidence).
Tag Q1_22_rating tag was added to gene: SSBP1. Tag Q1_22_MOI tag was added to gene: SSBP1.
Mode of inheritance for gene: SSBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: SSBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SSBP1 were changed from No OMIM phenotype to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Publications for gene: SSBP1 were set to 29182774
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