Intestinal failure or congenital diarrhoea
Gene: ADAMTS3

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

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

PMID: 28985353 - 2 siblings with compound het variants. Phenotype is lymphedema, lymphangiectasia and distinct facial feature. Both also presented with protein-losing enteropathy. Some functional data showing altered protein activity. PMID: 30450763 - 1 case with a homozyous variant in ADAMTS3 in a child with clinical diagnosis of Hennekam lymphangiectasialymphedema syndrome. It is reported that intestinal abnormalities resulted in bloody stools and malabsorption.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154

OMIM

605011

Clinvar variants

Variants in ADAMTS3

Penetrance

None

Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: ADAMTS3 was added gene: ADAMTS3 was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154

Intestinal failure or congenital diarrhoea Gene: ADAMTS3