1. Genes and Genomic Entities
  2. SSBP1

SSBP1

single stranded DNA binding protein 1
OMIM: 600439, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SSBP1 in Mitochondrial DNA maintenance disorder


Level 2: Mitochondrial
Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Green SSBP1 in Optic neuropathy


Level 2: Ophthalmology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Optic atrophy 13 with retinal and foveal abnormalities OMIM:165510
Green SSBP1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review 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
    Green SSBP1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
    Green SSBP1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
    Green SSBP1 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510