Ataxia and cerebellar anomalies - narrow panel
Gene: ZFHX3
Only STRs are described. The way the gene is currently added - will include only analysis of SNV/CNVs.Created: 18 Mar 2024, 6:01 p.m. | Last Modified: 18 Mar 2024, 6:01 p.m.
Panel Version: 4.58
A trinucleotide expansion ZFHX3_GGC variant has been reported in 8 affected individuals from 5 Swedish families with Spinocerebellar ataxia 4 (OMIM: 600223)(PMID: 38035881). Haplotype analysis showed a shared ancestry amongst the affected family member, therefore the STR is regarded as a founder variant.Created: 18 Mar 2024, 5:14 p.m. | Last Modified: 18 Mar 2024, 5:14 p.m.
Panel Version: 4.58
Tag STR tag was added to gene: ZFHX3.
Phenotypes for gene: ZFHX3 were changed from syndromic intellectual disability to Spinocerebellar ataxia 4, OMIM:600223; spinocerebellar ataxia type 4, MONDO:0010847
gene: ZFHX3 was added gene: ZFHX3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber,Literature Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX3 were set to 38412861; 38035881; 37292950 Phenotypes for gene: ZFHX3 were set to syndromic intellectual disability