Ataxia - paediatric
Gene: ZNF423
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 gnomADCreated: 20 May 2020, 3:45 a.m. | Last Modified: 20 May 2020, 3:45 a.m.
Panel Version: 0.162
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
Mode of pathogenicity
Other
Ataxia is not a reported feature of the phenotype in JBS19.Created: 16 Jan 2020, 4:10 a.m. | Last Modified: 16 Jan 2020, 4:10 a.m.
Panel Version: 0.9
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 19, 614844
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, 5:48 a.m. | Last Modified: 3 Jan 2020, 5:48 a.m.
Panel Version: 0.569
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 19, OMIM# 614844
Publications
Gene: znf423 has been classified as Red List (Low Evidence).
Gene: znf423 has been classified as Red List (Low Evidence).
gene: ZNF423 was added gene: ZNF423 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ZNF423 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were set to Nephronophthisis 14