Congenital Heart Defect
Gene: ADAMTS19
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 phenotypeCreated: 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: 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: LiteratureCreated: 21 Apr 2020, 1:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiac valvular dysplasia 2, MIM# 620067
Publications
Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067
Gene: adamts19 has been classified as Green List (High Evidence).
Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Gene: adamts19 has been classified as Amber List (Moderate Evidence).
gene: ADAMTS19 was added gene: ADAMTS19 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 31844321 Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease Review for gene: ADAMTS19 was set to AMBER