RAP1B

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red RAP1B in Kabuki syndrome Level 3: Kabuki Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Kabuki-like syndrome
Amber RAP1B in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability cytopenia Tags watchlist
Amber RAP1B in Cytopenia - NOT Fanconi anaemia Version 3.32 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability cytopenia Tags Q4_23_promote_green Q4_23_NHS_review
Red RAP1B in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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
Amber RAP1B in Growth failure in early childhood Version 3.88 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability short stature Tags watchlist
Amber RAP1B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability Tags Q4_23_promote_green