Childhood onset hereditary spastic paraplegia
Gene: AP4E1
Appears to be childhood onset only. Few patients reported but sufficient to show association.Created: 3 May 2019, 4:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Victoria-childhood onset. Several publications. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, 613744
Onset at birth for SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVECreated: 14 Jan 2019, 4:14 p.m.
Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
Publications for gene: AP4E1 were set to 20972249
Source Yorkshire and North East GLH was added to AP4E1.
Source NHS GMS was added to AP4E1.
Source London North GLH was added to AP4E1.
Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1
Arianna Tucci: Onset at birth for SPASTIC PAR
Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, 613744
Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
gene: AP4E1 was added gene: AP4E1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011) Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive