DDG2P
Gene: ADAMTS19

ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19)
EnsemblGeneIds (GRCh38): ENSG00000145808
EnsemblGeneIds (GRCh37): ENSG00000145808
OMIM: 607513, Gene2Phenotype
ADAMTS19 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ADAMTS19-related cardiac valvular dysplasia are strong, biallelic_autosomal and loss of function (PMIDs: 31844321, 32323311). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03739.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ADAMTS19-related cardiac valvular dysplasia; OMIM:620067.0; MONDO:0859572

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

OMIM:620067.0
MONDO:0859572
ADAMTS19-related cardiac valvular dysplasia

OMIM

607513

Clinvar variants

Variants in ADAMTS19

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ADAMTS19 was added gene: ADAMTS19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 32323311; 31844321 Phenotypes for gene: ADAMTS19 were set to OMIM:620067.0; MONDO:0859572; ADAMTS19-related cardiac valvular dysplasia

DDG2P Gene: ADAMTS19