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| Paediatric disorders - additional genes v2.7 | ADAMTS19 |
Arina Puzriakova 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. |
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| Paediatric disorders - additional genes v2.7 | ADAMTS19 | Arina Puzriakova reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.6 | ADAMTS19 |
Arina Puzriakova 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) |
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| Paediatric disorders - additional genes v1.97 | ADAMTS19 | Sarah Leigh Tag Q2_22_expert_review tag was added to gene: ADAMTS19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.92 | ADAMTS19 | Ivone Leong Classified gene: ADAMTS19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.92 | ADAMTS19 | Ivone Leong Gene: adamts19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.91 | ADAMTS19 |
Ivone Leong 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 Added comment: 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: Literature |
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