Paediatric disorders - additional genes
Gene: ADAMTS19
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 10:54 a.m. | Last Modified: 31 Jan 2023, 10:54 a.m.
Panel Version: 2.7
This gene is not associated with a phenotype in OMIM or Gene2Phenotype. It is a Green gene on the Familial non syndromic congenital heart disease (Version 1.60) panel with the following reviews:
"New 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
Zornitza Stark (Australian Genomics), 1 Jul 2020"
"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
Zornitza Stark (Australian Genomics), 1 May 2020"
After consulting the Genomics England Clinical Team it was decided that this gene should be added to this panel as an Amber gene and subject to GMS specialist review panel to consider whether the isolated phenotype is appropriate for inclusion. If appropriate then this gene should be promoted to Green status.
Sources: LiteratureCreated: 4 May 2021, 12:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic heart valve disease; heart valve disease, MONDO:0002869
Publications
Tag Q2_21_rating was removed from gene: ADAMTS19. Tag Q2_21_phenotype was removed from gene: ADAMTS19. Tag Q2_22_expert_review was removed from gene: ADAMTS19.
Source Expert Review Green was added to ADAMTS19. Source NHS GMS was added to ADAMTS19. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_22_expert_review tag was added to gene: ADAMTS19.
Gene: adamts19 has been classified as Amber List (Moderate Evidence).
gene: ADAMTS19 was added gene: ADAMTS19 was added to Paediatric disorders - additional genes. Sources: Literature Q2_21_rating, Q2_21_phenotype tags were added to gene: ADAMTS19. Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 31844321; 32323311 Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease; heart valve disease, MONDO:0002869 Review for gene: ADAMTS19 was set to AMBER