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  2. Kabuki syndrome
  3. RAP1A
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Kabuki syndrome

Gene: RAP1A

Amber List (moderate evidence)
RAP1A (RAP1A, member of RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000116473
EnsemblGeneIds (GRCh37): ENSG00000116473
OMIM: 179520, Gene2Phenotype
RAP1A is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single individual reported with KS-like phenotype and de novo missense variant in RAP1A, functional data including animal model.
Created: 8 Dec 2020, 11:25 p.m. | Last Modified: 8 Dec 2020, 11:25 p.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome

Publications

Created: 8 Dec 2020, 11:25 p.m.
Last Modified: 8 Dec 2020, 11:25 p.m.
Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Kabuki syndrome
OMIM
179520
Clinvar variants
Variants in RAP1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rap1a has been classified as Amber List (Moderate Evidence).

8 Dec 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAP1A were changed from to Kabuki syndrome

8 Dec 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAP1A were set to

8 Dec 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAP1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rap1a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAP1A was added gene: RAP1A was added to Kabuki syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAP1A was set to Unknown