Lymphoedema_nonsyndromic

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 6 Apr 2021, 9:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphoedema, MONDO:0019297, ARAP3-related

Publications

Details

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

History Filter Activity

20 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARAP3 was added gene: ARAP3 was added to Lymphoedema_nonsyndromic. 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