RAP1B

RAP1B, member of RAS oncogene family
OMIM: 179530, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber RAP1B in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Amber RAP1B in Kabuki syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 0.15	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Kabuki-like syndrome
Green RAP1B in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Green RAP1B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Amber RAP1B in Growth failure Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Green RAP1B in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654