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  3. SSBP1
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Likely inborn error of metabolism

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 6 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Created: 1 Feb 2023, 10:24 a.m.
Last Modified: 1 Feb 2023, 10:24 a.m.
Panel version: 3.6

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: The moi for this gene should be changed to BOTH monoallelic and Biallelic as PMID: 34905022 & 3155024 report two cases of SSBP1-disease associated with biallelic SSBP1 variants. The variant 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, 4:04 p.m. | Last Modified: 4 Jan 2022, 5:12 p.m.
Panel Version: 2.212
Created: 4 Jan 2022, 4:04 p.m.
Last Modified: 4 Jan 2022, 5:12 p.m.
Panel version: 2.211

Catherine Snow (Genomics England)

Green review on panel - Optic neuropathy (Version 2.0) and review from relevant expert on Mitochondrial DNA maintenance disorder (Version 1.0)
Created: 18 Nov 2019, 4:03 p.m. | Last Modified: 18 Nov 2019, 4:03 p.m.
Panel Version: 1.406
Created: 18 Nov 2019, 4:03 p.m.
Last Modified: 18 Nov 2019, 4:03 p.m.
Panel version: 1.406

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
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_MOI was removed from gene: SSBP1.

1 Feb 2023, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SSBP1. Mode of inheritance for gene SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Jan 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SSBP1 were set to 31298765; 31550240; 31550237; 30412255; 31479473; 31479473

4 Jan 2022, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Jan 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: SSBP1.

4 Jan 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SSBP1 were set to 31298765

4 Jan 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SSBP1 were changed from to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510

18 Nov 2019, Gel status: 3

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

Catherine Snow (Genomics England)

gene: SSBP1 was added gene: SSBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SSBP1 were set to 31298765