Hereditary spastic paraplegia
Gene: ZFYVE27EnsemblGeneIds (GRCh38): ENSG00000155256
EnsemblGeneIds (GRCh37): ENSG00000155256
OMIM: 610243, Gene2Phenotype
ZFYVE27 is in 6 panels
2 reviews
helen kingston (CMFT NHS Foundation Trust, Manchester)
emma baple (Genomics England Curator)
Only one family describedCreated: 7 Feb 2016, 10:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Spastic paraplegia 33, autosomal dominant
- OMIM
- 610243
- Clinvar variants
- Variants in ZFYVE27
- Penetrance
- Complete
- Publications
-
- Mannan AU (2006)
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ZFYVE27 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZFYVE27 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ZFYVE27 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ZFYVE27 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen