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Hereditary Spastic Paraplegia - paediatric

Gene: ZFR

Red List (low evidence)
ZFR (zinc finger RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000056097
EnsemblGeneIds (GRCh37): ENSG00000056097
OMIM: 615635, Gene2Phenotype
ZFR is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family reported with a homozygous variant.
Created: 19 Apr 2020, 11:32 a.m. | Last Modified: 19 Apr 2020, 11:32 a.m.
Panel Version: 0.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia

Publications

Created: 19 Apr 2020, 11:32 a.m.
Last Modified: 19 Apr 2020, 11:32 a.m.
Panel version: 0.77

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Complicated hereditary spastic paraplegia
OMIM
615635
Clinvar variants
Variants in ZFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ZFR was added gene: ZFR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: ZFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFR were set to 24482476 Phenotypes for gene: ZFR were set to Complicated hereditary spastic paraplegia