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Growth failure
Gene: RAP1B

RAP1B (RAP1B, member of RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000127314
EnsemblGeneIds (GRCh37): ENSG00000127314
OMIM: 179530, Gene2Phenotype
RAP1B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated individuals reported, Kabuki-like disorder. Short stature in some, but unclear if this is key/prominent/consistent feature.
Created: 16 Aug 2021, 5:14 a.m. | Last Modified: 16 Aug 2021, 5:14 a.m.

Panel Version: 0.151

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654

Publications

Created: 16 Aug 2021, 5:14 a.m.
Last Modified: 16 Aug 2021, 5:14 a.m.
Panel version: 1.72

Details

Mode of Inheritance

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

OMIM

Clinvar variants

Variants in RAP1B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Dec 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654

2 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAP1B were changed from Syndromic intellectual disability; short stature to Syndromic disease, MONDO:0002254, RAP1B-related

16 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rap1b has been classified as Amber List (Moderate Evidence).

16 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAP1B were changed from short stature; Syndromic intellectual disability to Syndromic intellectual disability; short stature

19 Jul 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAP1B was added gene: RAP1B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAP1B were set to 26280580; 32627184 Phenotypes for gene: RAP1B were set to short stature; Syndromic intellectual disability