Cholestasis
Gene: ZFYVE19The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
PMID: 33853651 (2021) - Case report on Moroccan child with biallelic, predicted complete LoF variant in ZFYVE19 homozygous variant with heterozygous consanguineous parents. Patient had neonatal onset PFIC, high-GGT intrahepatic cholestasis, histopathological features of ductal plate malformation/congenital hepatic fibrosis, and cultured patient fibroblasts had features of ciliopathy.
Source: Literature.Created: 9 Feb 2022, 5:49 p.m. | Last Modified: 12 Feb 2022, 5 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neonatal cholestasis; cilia dysfunction
Publications
PMID: 32737136 (2020) - Nine Han Chinese children from seven families with biallelic, predicted complete LoF variants in ZFYVE19. All patients had high-GGT intrahepatic cholestasis, portal hypertension, and histopathological features of the ductal plate malformation/congenital hepatic fibrosis.
ZFYVE19 depletion in cultured cells from one patient yielded centriolar and axonemal abnormalities, and immunostaining for two ciliary proteins DCDC2 and ACALT showed abnormal localisation in patient cholangiocytes, indicating this as a novel ciliopathy disorder.
Sources: LiteratureCreated: 1 Sep 2020, 2:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis
Publications
Publications for gene: ZFYVE19 were set to 32737136
Phenotypes for gene: ZFYVE19 were changed from Cholestasis to Cholestasis, progressive familial intrahepatic, 9, OMIM:619849
Tag gene-checked tag was added to gene: ZFYVE19.
Tag for-review was removed from gene: ZFYVE19.
Source Expert Review Green was added to ZFYVE19. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: ZFYVE19.
Gene: zfyve19 has been classified as Amber List (Moderate Evidence).
gene: ZFYVE19 was added gene: ZFYVE19 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE19 were set to 32737136 Phenotypes for gene: ZFYVE19 were set to Cholestasis Review for gene: ZFYVE19 was set to GREEN