Childhood onset hereditary spastic paraplegia
Gene: AP4S1
Appears to be childhood onset only. Few patients reported but sufficient to show association.Created: 3 May 2019, 4:14 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: 2 reported families but convincing evidence. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 52, autosomal recessive, 614067; developmental delay; seizures
Spastic paraplegia 52, autosomal recessive, onset at birthCreated: 14 Jan 2019, 4:15 p.m.
Publications for gene: AP4S1 were set to 21620353
Source Yorkshire and North East GLH was added to AP4S1.
Source NHS GMS was added to AP4S1.
Source London North GLH was added to AP4S1.
Added phenotypes developmental delay; seizures; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Arianna Tucci: Spastic paraplegia 52, autosom
Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Phenotypes for gene: AP4S1 were changed from seizures; developmental delay; Spastic paraplegia 52, autosomal recessive to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067
gene: AP4S1 was added gene: AP4S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4S1 were set to Abou Jamra et al. (2011) Phenotypes for gene: AP4S1 were set to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive