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  2. Lymphoedema_syndromic
  3. ADAMTS3
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Lymphoedema_syndromic

Gene: ADAMTS3

Green List (high evidence)
ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3)
EnsemblGeneIds (GRCh38): ENSG00000156140
EnsemblGeneIds (GRCh37): ENSG00000156140
OMIM: 605011, Gene2Phenotype
ADAMTS3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and functional data. Some dysmorphism described.
Sources: Expert Review
Created: 1 Jul 2020, 8:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)

Publications

Created: 1 Jul 2020, 8:34 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)
OMIM
605011
Clinvar variants
Variants in ADAMTS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts3 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts3 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAMTS3 was added gene: ADAMTS3 was added to Lymphoedema_syndromic. 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