Lymphoedema_nonsyndromic
Gene: ARAP3EnsemblGeneIds (GRCh38): ENSG00000120318
EnsemblGeneIds (GRCh37): ENSG00000120318
OMIM: 606647, Gene2Phenotype
ARAP3 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297, ARAP3-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arap3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arap3 has been classified as Amber List (Moderate Evidence).
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