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 5.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654, Syndromic intellectual disability, Cytopenia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
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:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654, Syndromic intellectual disability