Ataxia and cerebellar anomalies - narrow panel
STR: ZFHX3_GGC
Chromosome: 16
GRCh38 Position: 72787694-72787757
Repeated Sequence: GGC
Normal Number of Repeats: < 26
Pathogenic Number of Repeats: = or > 41
ZFHX3 (zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000140836
EnsemblGeneIds (GRCh37): ENSG00000140836
OMIM: 104155, Gene2Phenotype
ZFHX3 is in 0 panels
GRCh38 Position: 72787694-72787757
Repeated Sequence: GGC
Normal Number of Repeats: < 26
Pathogenic Number of Repeats: = or > 41
ZFHX3 (zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000140836
EnsemblGeneIds (GRCh37): ENSG00000140836
OMIM: 104155, Gene2Phenotype
ZFHX3 is in 0 panels
1 review
Sarah Leigh (Genomics England Curator)
ZFHX3 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence.
ZFHX3_GGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3
ZFHX3_GGC is on https://stripy.org/database
ZFHX3_GGC is not on DRAGON 4.02.
The coordinates and pathogenic ranges of the sequence repeats were obtained from
https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 and were the same on https://stripy.org/database
There is enough evidence for this STR to be green on this panel.
This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: LiteratureCreated: 25 Mar 2025, 4:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 4, OMIM:600223
Details
- Name
- ZFHX3_GGC
- Chromosome
- 16
- GRCh38 Coordinates
- 72787694-72787757
- Repeated Sequence
- GGC
- Normal Number of Repeats: <
- 26
- Pathogenic Number of Repeats: = or >
- 41
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Spinocerebellar ataxia 4, OMIM:600223
- Tags
- OMIM
- 104155
- Clinvar variants
- Variants in ZFHX3
- Penetrance
- None
History Filter Activity
25 Mar 2025, Gel status: 1
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)STR: ZFHX3_GGC was added STR: ZFHX3_GGC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature STR, NGS Not Validated tags were added to STR: ZFHX3_GGC. Mode of inheritance for STR: ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for STR: ZFHX3_GGC were set to Spinocerebellar ataxia 4, OMIM:600223 Review for STR: ZFHX3_GGC was set to AMBER