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  3. SSBP1
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Mitochondrial disease

Gene: SSBP1

Green List (high evidence)
SSBP1 (single stranded DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000106028
EnsemblGeneIds (GRCh37): ENSG00000106028
OMIM: 600439, Gene2Phenotype
SSBP1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510

Created: 5 Sep 2020, 1:44 a.m.
Last Modified: 5 Sep 2020, 1:44 a.m.
Panel version: 0.479

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Cases associated with mtDNA depletion without accumulation of multiple deletions
Created: 20 Mar 2020, 2:38 a.m. | Last Modified: 20 Mar 2020, 2:38 a.m.
Panel Version: 0.219
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.
Sources: NHS GMS
Created: 20 Mar 2020, 2:30 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Optic atrophy with or without extraocular phenotypes

Publications

Created: 20 Mar 2020, 2:30 a.m.

Panel version: 0.218

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy with or without extraocular phenotypes
  • Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
OMIM
600439
Clinvar variants
Variants in SSBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510

20 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ssbp1 has been classified as Green List (High Evidence).

20 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ssbp1 has been classified as Green List (High Evidence).

20 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SSBP1 was added gene: SSBP1 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240 Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes Review for gene: SSBP1 was set to GREEN