1. Panels
  2. Hydrops fetalis
  3. ADAMTS3
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrops fetalis

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 reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. Supportive functional data.
Sources: Expert list
Created: 14 Aug 2020, 3:43 a.m. | Last Modified: 29 Nov 2021, 6 a.m.
Panel Version: 0.212

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154

Publications

Created: 14 Aug 2020, 3:43 a.m.
Last Modified: 29 Nov 2021, 6 a.m.
Panel version: 0.212

Details

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

History Filter Activity

29 Nov 2021, 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).

14 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts3 has been classified as Amber List (Moderate Evidence).

14 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts3 has been classified as Amber List (Moderate Evidence).

14 Aug 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 Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS3 were set to 30450763; 28985353 Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154 Review for gene: ADAMTS3 was set to AMBER