1. Genes and Genomic Entities
  2. SCAPER

SCAPER

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SCAPER in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		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
    Green SCAPER in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder and retinitis pigmentosa, 618195