Genomics England
GMS Panels
Panels
Genes and Entities

RAP1B

RAP1B, member of RAS oncogene family
OMIM: 179530
PanelMode of inheritanceDetails
3 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.36
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndromic intellectual disability, cytopenia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndromic intellectual disability