RAP1B

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red RAP1B in Kabuki syndrome Level 3: Kabuki Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Kabuki-like syndrome
Red RAP1B in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	Other	Sources Expert Review Red Literature Phenotypes Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000 Tags somatic
Green RAP1B in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 Syndromic intellectual disability Cytopenia
Amber RAP1B in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000 Tags Q4_25_promote_green Q4_25_NHS_review
Green RAP1B in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 Syndromic intellectual disability Cytopenia
Green RAP1B in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654
Red RAP1B in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red DD-Gene2Phenotype Phenotypes RAP1B-related developmental disorder
Green RAP1B in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 Syndromic intellectual disability
Amber RAP1B in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Syndromic intellectual disability short stature Tags watchlist