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| Joubert syndrome and other neurological ciliopathies v0.73 | ZNF423 | Zornitza Stark Marked gene: ZNF423 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.73 | ZNF423 | Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.73 | ZNF423 | Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.73 | ZNF423 | Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.70 | ZNF423 |
Crystle Lee gene: ZNF423 was added gene: ZNF423 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ZNF423 were set to 22863007 Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 (MIM#614844) Mode of pathogenicity for gene: ZNF423 was set to Other Review for gene: ZNF423 was set to AMBER Added comment: Limited reports, single publication in 2012 reported AD and AR inheritance. Mechanism not well established. Pending additional reports. 2 Turkish sibs with Joubert syndrome with homozygous mutation in the ZNF423 gene. Two additional patients with Joubert syndrome were found to carry heterozygous ZNF423 mutations , which caused a dominant-negative effect on protein function in cellular studies. Published variants not present in gnomAD at unexpected frequencies and minimal LoF variants in gnomAD Sources: Expert Review |
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