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 6 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Adult onset; single informative family published. In vitro expression studies contradictory.
Created: 10 May 2019, 1:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

Single family, Mild pes cavus, progressive, no cognitive decline.
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic paraplegia 33, autosomal dominant

Publications

  • Mannan AU (2006)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • South West GLH
Phenotypes
  • Spastic paraplegia 33, autosomal dominant
OMIM
610243
Clinvar variants
Variants in ZFYVE27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ZFYVE27 were set to Mannan AU (2006)

13 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ZFYVE27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ZFYVE27.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ZFYVE27.

27 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27 Publications for gene ZFYVE27 were changed from to Mannan AU (2006)

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ZFYVE27 was set to