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| Fetal anomalies v0.229 | ZNF423 | Rebecca Foulger Marked gene: ZNF423 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.229 | ZNF423 | Rebecca Foulger Added comment: Comment when marking as ready: Marked ZNF423 as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.229 | ZNF423 | Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Classified gene: ZNF423 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Classified gene: ZNF423 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.209 | ZNF423 | Rebecca Foulger Publications for gene: ZNF423 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.208 | ZNF423 | Rebecca Foulger commented on gene: ZNF423: Chaki et al. (2012 PMID:22863007) identified a homozygous 2738C-T variant in the ZNF423 gene (P913L) in two Turkish siblings with with nephronophthisis-14 manifested as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Heterozygous variants were found in two additional unrelated patients with Joubert syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.208 | ZNF423 | Rebecca Foulger commented on gene: ZNF423: ZNF423 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ZNF423 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature, with biallelic/monoallelic inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZNF423 | Rebecca Foulger reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ZNF423 | Rebecca Foulger Added phenotypes Nephronophthisis 14 614844 for gene: ZNF423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ZNF423 |
Rebecca Foulger gene: ZNF423 was added gene: ZNF423 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844 |
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