Childhood onset hereditary spastic paraplegia
Gene: AP4M1
Appears to be childhood onset only. Few patients reported but sufficient to show association.Created: 3 May 2019, 4:13 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. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 50, autosomal recessive, 612936
Spastic paraplegia 50, autosomal recessive, onset at birthCreated: 14 Jan 2019, 4:14 p.m.
Publications for gene: AP4M1 were set to 19559397
Source Yorkshire and North East GLH was added to AP4M1.
Source NHS GMS was added to AP4M1.
Source London North GLH was added to AP4M1.
Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Arianna Tucci: Spastic paraplegia 50, autosom
Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, 612936
gene: AP4M1 was added gene: AP4M1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to Verkerk et al. (2009) Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive