SCAPER

S-phase cyclin A associated protein in the ER
OMIM: 611611
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION, Intellectual developmental disorder and retinitis pigmentosa, 618195
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
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