Genomics England
GMS Panels
Panels
Genes and Entities

SCAPER

S-phase cyclin A associated protein in the ER
OMIM: 611611
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION, Intellectual developmental disorder and retinitis pigmentosa, 618195
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism, Intellectual developmental disorder and retinitis pigmentosa, 618195