Primary lymphoedema

Gene: ARAP3

Amber List (moderate evidence)

ARAP3 (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3)
EnsemblGeneIds (GRCh38): ENSG00000120318
EnsemblGeneIds (GRCh37): ENSG00000120318
OMIM: 606647, Gene2Phenotype
ARAP3 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 5 May 2021, 3:39 p.m. | Last Modified: 5 May 2021, 3:39 p.m.
Panel Version: 2.12

Zornitza Stark (Australian Genomics)

I don't know

Three unrelated families reported with rare missense variants in this gene as part of a lymphoedema cohort. However, incomplete information regarding segregation and no supporting functional data.
Sources: Literature
Created: 17 Apr 2021, 7:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphoedema

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Lymphoedema, MONDO:0019297
Tags
watchlist
OMIM
606647
Clinvar variants
Variants in ARAP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: arap3 has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ARAP3.

4 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297

17 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ARAP3 was added gene: ARAP3 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARAP3 were set to 32908855 Phenotypes for gene: ARAP3 were set to Lymphoedema Review for gene: ARAP3 was set to AMBER