Hereditary Neuropathy - complex
STR: SCA4_ZFHX3_GGCGRCh37 Position: 72821594-72821657
GRCh38 Position: 72787695-72787758
Repeated Sequence: GGC
Normal Number of Repeats: < 30
Pathogenic Number of Repeats: = or > 48
ZFHX3 (zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000140836
EnsemblGeneIds (GRCh37): ENSG00000140836
OMIM: 104155, Gene2Phenotype
ZFHX3 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades.
PMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758
Normal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)
Undefined pathogenic 30-48 repeats
Definitive pathogenicity 48+ repeats
Sources: LiteratureCreated: 4 Apr 2024, 10:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spinocerebellar ataxia type 4 MONDO:0010847
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- SCA4_ZFHX3_GGC
- Chromosome
- 16
- GRCh37 Coordinates
- 72821594-72821657
- GRCh38 Coordinates
- 72787695-72787758
- Repeated Sequence
- GGC
- Normal Number of Repeats: <
- 30
- Pathogenic Number of Repeats: = or >
- 48
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- spinocerebellar ataxia type 4 MONDO:0010847
- OMIM
- 104155
- Clinvar variants
- Variants in ZFHX3
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: SCA4_ZFHX3_GGC was added STR: SCA4_ZFHX3_GGC was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134 Phenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847 Review for STR: SCA4_ZFHX3_GGC was set to GREEN STR: SCA4_ZFHX3_GGC was marked as clinically relevant