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Congenital Heart Defect

Gene: ADAMTS19

Green List (high evidence)

ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19)
EnsemblGeneIds (GRCh38): ENSG00000145808
EnsemblGeneIds (GRCh37): ENSG00000145808
OMIM: 607513, Gene2Phenotype
ADAMTS19 is in 3 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac valvular dysplasia 2, MIM# 620067
OMIM
607513
Clinvar variants
Variants in ADAMTS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: adamts19 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts19 has been classified as Amber List (Moderate Evidence).

21 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts19 has been classified as Amber List (Moderate Evidence).

21 Apr 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: 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