| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v1.110 | ZFYVE19 | Sarah Leigh Publications for gene: ZFYVE19 were set to 32737136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.109 | ZFYVE19 | Sarah Leigh Phenotypes for gene: ZFYVE19 were changed from Cholestasis to Cholestasis, progressive familial intrahepatic, 9, OMIM:619849 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.107 | ZFYVE19 | Arina Puzriakova Tag gene-checked tag was added to gene: ZFYVE19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | ZFYVE19 | Ivone Leong Tag for-review was removed from gene: ZFYVE19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | ZFYVE19 | Ivone Leong commented on gene: ZFYVE19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | ZFYVE19 |
Ivone Leong Source Expert Review Green was added to ZFYVE19. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.103 | ZFYVE19 |
Alison Bybee changed review comment from: PMID: 33853651 (2021) - Case report on Moroccan child with biallelic, predicted complete LoF variant in ZFYVE19 and 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.; to: 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. |
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| Cholestasis v1.103 | ZFYVE19 | Alison Bybee reviewed gene: ZFYVE19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33853651; Phenotypes: neonatal cholestasis, cilia dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.24 | ZFYVE19 | Arina Puzriakova Tag for-review tag was added to gene: ZFYVE19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.24 | ZFYVE19 | Arina Puzriakova Classified gene: ZFYVE19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.24 | ZFYVE19 | Arina Puzriakova Gene: zfyve19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.23 | ZFYVE19 |
Arina Puzriakova 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 Added comment: 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: Literature |
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