1. Genes and Genomic Entities
  2. SCAPER

SCAPER

S-phase cyclin A associated protein in the ER
OMIM: 611611, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SCAPER in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green SCAPER in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    • Intellectual developmental disorder and retinitis pigmentosa, 618195
    Green SCAPER in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism
    • Intellectual developmental disorder and retinitis pigmentosa, 618195