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Intellectual disability syndromic and non-syndromic

Gene: RAP1B

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Another individual with de novo missense variant from a Kabuki-like cohort but note facial gestalt was not typical, had DD.
Created: 8 Dec 2020, 11:14 p.m. | Last Modified: 8 Dec 2020, 11:14 p.m.
Panel Version: 0.3265
Two unrelated individuals, de novo variants, functional data: upgrade to Amber.
Created: 8 Dec 2020, 6:02 a.m. | Last Modified: 8 Dec 2020, 6:02 a.m.
Panel Version: 0.3265

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

De novo variants in the RAP1B gene (c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg)) in two unrelated patients with thrombocytopenia, microcephaly, learning difficulties, renal malformations, structural anomalies of the brain and other features (not Kabuki like).

RAP1B is a member of the RAS superfamily of small GTPases. There is strong evidence that the p.Gly12Val and p.Gly60Arg variants in the RAP1B gene lead into a dysregulation of the downstream pathway. Both substitutions have been described previously as dominant constitutively active in RAS‐related proteins (gain of function variants).
Sources: Literature
Created: 8 Dec 2020, 4:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
RAP1B‐associated phenotype, no OMIM #

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
OMIM
179530
Clinvar variants
Variants in RAP1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2023, Gel status: 3

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: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAP1B were changed from RAP1B‐associated phenotype, no OMIM # to Syndromic disease, MONDO:0002254, RAP1B-related

8 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAP1B were set to PMID: 32627184

8 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rap1b has been classified as Green List (High Evidence).

8 Dec 2020, 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).

8 Dec 2020, 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).

8 Dec 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: RAP1B was added gene: RAP1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAP1B were set to PMID: 32627184 Phenotypes for gene: RAP1B were set to RAP1B‐associated phenotype, no OMIM # Review for gene: RAP1B was set to RED