Adult onset hereditary spastic paraplegia
Gene: ZFYVE26EnsemblGeneIds (GRCh38): ENSG00000072121
EnsemblGeneIds (GRCh37): ENSG00000072121
OMIM: 612012, Gene2Phenotype
ZFYVE26 is in 16 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
8 families with autosomal recessive spastic paraplegia-15 identified 6 different homozygous mutations in the ZFYVE26 gene. In sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 15, autosomal recessive, 270700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 15, autosomal recessive, OMIM:270700
- OMIM
- 612012
- Clinvar variants
- Variants in ZFYVE26
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Retinal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ZFYVE26 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ZFYVE26.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to ZFYVE26. Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ZFYVE26.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ZFYVE26 was set to