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Possible mitochondrial disorder - nuclear genes

Gene: SSBP1

Red List (low evidence)

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

2 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

The publications above indicate that pathogenic variants cause disease via a dominant negative effect.
7 different variants have been reported in 9 unrelated families/individuals.
Only one variant has been reported in association with biallelic (autosomal recessive) inheritance to date; i.e. the majority of reported cases are of monoallelic (autosomal dominant) inheritance.
Green rating has been proposed by the GMS Mitochondrial specialist test group on the basis of the evidence summarised here.
Created: 12 Nov 2019, 5:21 p.m. | Last Modified: 12 Nov 2019, 5:26 p.m.
Panel Version: 1.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
optic atrophy; optic atrophy with additional features (including retinal degeneration)

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Details

Mode of Inheritance
Unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
OMIM
600439
Clinvar variants
Variants in SSBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SSBP1 were set to

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SSBP1 was added gene: SSBP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SSBP1 was set to Unknown Phenotypes for gene: SSBP1 were set to No OMIM phenotype