RAP1B:Ensemblv90

RAP1B, member of RAS oncogene family
OMIM: 179530, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber RAP1B in Bone Marrow Failure Level 2: Haematological disorders Version 1.131 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 0.17	1 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 1.3802	1 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 1.508	2 reviews	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 1.87	1 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 1.482	2 reviews	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 Bone Marrow Failure Level 2: Haematological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber 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 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Kabuki-like syndrome
Amber RAP1B in Growth failure Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Amber Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654