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  1. Genes and Genomic Entities
  2. SSBP1

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 1.3520

2 reviews 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 1.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews 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 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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