Hereditary spastic paraplegia
Gene: AP5Z1
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 8:24 a.m.
Hirst et al 2016 (4 families) since PanelApp review (2016)Created: 26 Nov 2018, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Only one family described to date, further evidence required.Created: 7 Feb 2016, 6:53 p.m.
Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive ; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
AP5Z1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene AP5Z1 was changed to BIALLELIC, autosomal or pseudoautosomal
AP5Z1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
AP5Z1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list