Renal Ciliopathies and Nephronophthisis

Gene: ZNF423

I don't know

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

Created: 20 May 2020, 3:46 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 19 (MIM#614844)

Publications

• 22863007

Mode of pathogenicity
Other

I don't know

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.

Created: 3 Jan 2020, 4:51 a.m. | Last Modified: 3 Jan 2020, 4:51 a.m.

Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 19, OMIM# 614844

Publications

• 22863007