Childhood onset hereditary spastic paraplegia
Gene: SLC1A4
Childhood onset.Created: 10 May 2019, 9:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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: delayed psychomotor development with lack of speech and inability to walk, postnatal progressive microcephaly, and spasticity. Publications in unrelated families,Created: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Onset at birthCreated: 14 Jan 2019, 5:25 p.m.
Source Yorkshire and North East GLH was added to SLC1A4.
Source NHS GMS was added to SLC1A4.
Source London North GLH was added to SLC1A4.
Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4 Publications for gene SLC1A4 were changed from 25930971; 26041762; 29989513; 26138499; 27193218 to 26138499; 25930971; 26041762; 27193218; 29989513
Arianna Tucci: Onset at birth
gene: SLC1A4 was added gene: SLC1A4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971; 26041762; 29989513; 26138499; 27193218 Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657