Congenital Heart Defect

Gene: ADAMTS19

Green List (high evidence)

2020 paper reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies.

Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype

Created: 1 Jul 2020, 5:34 a.m. | Last Modified: 1 Jul 2020, 5:34 a.m.

Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heart valve disease (HVD)

Publications

• PMID: 32323311
• 31844321

I don't know

PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Literature

Created: 21 Apr 2020, 1:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiac valvular dysplasia 2, MIM# 620067

Publications

• 31844321