Mitochondrial disorders
Gene: SSBP1

SSBP1 (single stranded DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000106028
EnsemblGeneIds (GRCh37): ENSG00000106028
OMIM: 600439, Gene2Phenotype
SSBP1 is in 6 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Feb 2023, 12:16 p.m.
Last Modified: 1 Feb 2023, 12:16 p.m.
Panel version: 3.6

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 20 Mar 2020, 5:03 a.m.
Last Modified: 20 Mar 2020, 5:03 a.m.
Panel version: 2.5

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Panel version: 2.78

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510

OMIM

600439

Clinvar variants

Variants in SSBP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_22_rating was removed from gene: SSBP1.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SSBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jan 2022, Gel status: 2