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| 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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| Cholestasis v0.21 | DCDC2 | Ivone Leong Marked gene: DCDC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | DCDC2 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | DCDC2 | Ivone Leong Gene: dcdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | DCDC2 |
Ivone Leong Source Other was added to DCDC2. Mode of inheritance for gene DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sclerosing cholangitis, neonatal, 617394; PFIC type 5; Neonatal sclerosis cholangitis; Neonatal and Adult Cholestasis for gene: DCDC2 Publications for gene DCDC2 were changed from to 25557784; 27319779; 27469900 |
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| Cholestasis v0.4 | DCDC2 |
Ivone Leong Source Expert Review Green was added to DCDC2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | DCDC2 | Ivone Leong reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | DCDC2 |
Ivone Leong gene: DCDC2 was added gene: DCDC2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: DCDC2 was set to |
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