Hereditary spastic paraplegia
Gene: AP4E1
Three unrelated consanguinous families with homozygous LOF mutationsCreated: 6 Mar 2016, 7:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HSP; intellectual disability
Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene AP4E1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP4E1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP4E1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP4E1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AP4E1 was changed to BIALLELIC, autosomal or pseudoautosomal
AP4E1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
AP4E1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list