Lymphoedema_nonsyndromic
Gene: ADAMTS3EnsemblGeneIds (GRCh38): ENSG00000156140
EnsemblGeneIds (GRCh37): ENSG00000156140
OMIM: 605011, Gene2Phenotype
ADAMTS3 is in 5 panels
1 review
Chris Richmond (Genetic Health Queensland)
Note also in UK PanelApp nonsyndromic lymphedema list. Two papers, independent families. 30450763 paper supplies functional evidence.Should potentially add to syndromic lymphedema list also as dysmorphism reported. 28985353: in vitro and murine data that suggest a close functional interaction between ADAMTS3 and CCBE1 (an established lymphedema gene)
Sources: Expert ReviewCreated: 1 Jul 2020, 4:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)
- OMIM
- 605011
- Clinvar variants
- Variants in ADAMTS3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chris Richmond (Genetic Health Queensland)gene: ADAMTS3 was added gene: ADAMTS3 was added to Lymphoedema_nonsyndromic. Sources: Expert Review Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS3 were set to 28985353, 30450763 Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Review for gene: ADAMTS3 was set to GREEN