Hereditary Spastic Paraplegia - adult onset

Gene: ZFYVE27

Red List (low evidence)

ZFYVE27 (zinc finger FYVE-type containing 27)
EnsemblGeneIds (GRCh38): ENSG00000155256
EnsemblGeneIds (GRCh37): ENSG00000155256
OMIM: 610243, Gene2Phenotype
ZFYVE27 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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

16 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfyve27 has been classified as Red List (Low Evidence).

16 Mar 2021, Gel status: 1

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

16 Mar 2021, Gel status: 1

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

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: zfyve27 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 2

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