SSBP1

single stranded DNA binding protein 1
OMIM: 600439, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SSBP1 in Mendeliome


Version 1.1902

review 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

Green SSBP1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.32

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review 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

    Green SSBP1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review 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