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STRs in panel
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Inborn errors 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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
OMIM
600439
Clinvar variants
Variants in SSBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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