Hereditary Spastic Paraplegia - adult onset
Gene: ZFYVE27EnsemblGeneIds (GRCh38): ENSG00000155256
EnsemblGeneIds (GRCh37): ENSG00000155256
OMIM: 610243, Gene2Phenotype
ZFYVE27 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A missense variant (p.Gly191Val) that was originally identified in a 5-generation German HSP family is too common in gnomAD v2.1 for dominant disease, 7.8% in the African population (86 homozygotes overall). Additional Two Chinese cases identified with rare variants. Functional evidence not strong support.Created: 19 Apr 2020, 11:47 a.m. | Last Modified: 19 Apr 2020, 11:47 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 33, autosomal dominant MIM#610244
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia 33, autosomal dominant, MIM#610244
- OMIM
- 610243
- Clinvar variants
- Variants in ZFYVE27
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zfyve27 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZFYVE27 were changed from Spastic paraplegia 33, autosomal dominant to Spastic paraplegia 33, autosomal dominant, MIM#610244
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ZFYVE27 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: zfyve27 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFYVE27 were set to 29980238; 18606302; 16826525 Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant