1. Panels
  2. Childhood onset hereditary spastic paraplegia
  3. ZFYVE27

Childhood onset hereditary spastic paraplegia

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

1 review

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 May 2019, 1:19 p.m.

Panel version: 1.74

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
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

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.

3 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFYVE27 were set to Mannan AU (2006) Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant