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  2. Kabuki syndrome
  3. RAP1B
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Kabuki syndrome

Gene: RAP1B

Amber List (moderate evidence)
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

Single individual reported with de novo variant, but facial gestalt described as not typical, and note more recent publication of de novo missense in association with syndromic ID but not Kabuki-like. Functional data supports gene-disease association but degree of overlap with KS questionable.
Created: 8 Dec 2020, 11:09 p.m. | Last Modified: 8 Dec 2020, 11:27 p.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654; Kabuki-like syndrome

Publications

Created: 8 Dec 2020, 11:09 p.m.
Last Modified: 8 Dec 2020, 11:27 p.m.
Panel version: 0.14

Details

Mode of Inheritance
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
OMIM
179530
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; Kabuki-like syndrome to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654; Kabuki-like syndrome

2 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAP1B were changed from Kabuki syndrome to Syndromic disease, MONDO:0002254, RAP1B-related; Kabuki-like syndrome

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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rap1b has been classified as Red List (Low Evidence).

8 Dec 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAP1B were changed from to Kabuki syndrome

8 Dec 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAP1B were set to

8 Dec 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rap1b has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAP1B was added gene: RAP1B was added to Kabuki syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAP1B was set to Unknown