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Newborns main panel

Gene: ZFYVE19

Green List (high evidence)

ZFYVE19 (zinc finger FYVE-type containing 19)
EnsemblGeneIds (GRCh38): ENSG00000166140
EnsemblGeneIds (GRCh37): ENSG00000166140
ZFYVE19 is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 32737136 (9 Chinese children from 7 families), PMID: 33853651 (1 case),
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 9
Clinvar variants
Variants in ZFYVE19
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: ZFYVE19 was added gene: ZFYVE19 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE19 were set to Cholestasis, progressive familial intrahepatic, 9