Childhood onset hereditary spastic paraplegia
Gene: FARS2
Childhood onset.Created: 9 May 2019, 4:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
4 unrelated cases of FARS2 variants causing autosomal recessive HSP in the literature plus functional support. . In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 77, autosomal recessive, 617046
Onset of SPG77 in infancy/childhoodCreated: 14 Jan 2019, 4:52 p.m.
Source Yorkshire and North East GLH was added to FARS2.
Source NHS GMS was added to FARS2.
Source London North GLH was added to FARS2.
Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2 Publications for gene FARS2 were changed from 29126765; 26553276; 25851414; 30250868 to 26553276; 30250868; 25851414; 29126765
Arianna Tucci: Onset of SPG77 in infancy/chil
gene: FARS2 was added gene: FARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 29126765; 26553276; 25851414; 30250868 Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046