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  3. ZFHX3
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Ataxia and cerebellar anomalies - narrow panel

Gene: ZFHX3

Red List (low evidence)
ZFHX3 (zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000140836
EnsemblGeneIds (GRCh37): ENSG00000140836
OMIM: 104155, Gene2Phenotype
ZFHX3 is in 4 panels

2 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

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
Created: 18 Mar 2024, 6:01 p.m.
Last Modified: 18 Mar 2024, 6:01 p.m.
Panel version: 4.58

Sarah Leigh (Genomics England Curator)

I don't know

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
Created: 18 Mar 2024, 5:14 p.m.
Last Modified: 18 Mar 2024, 5:14 p.m.
Panel version: 4.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spinocerebellar ataxia 4, OMIM:600223
  • spinocerebellar ataxia type 4, MONDO:0010847
Tags
STR
OMIM
104155
Clinvar variants
Variants in ZFHX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2025, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: zfhx3 has been classified as Red List (Low Evidence).

18 Mar 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to gene: ZFHX3.

18 Mar 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ZFHX3 were changed from syndromic intellectual disability to Spinocerebellar ataxia 4, OMIM:600223; spinocerebellar ataxia type 4, MONDO:0010847

18 Mar 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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