Adult onset neurodegenerative disorder
Gene: FARS2
Spastic paraplegia-77 is an autosomal recessive neurologic disorder characterized by early-childhood onset of spasticity affecting the lower limbs and resulting in gait difficulties. Onset in first 5 years - red, at least 3 familiesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 77, autosomal recessive, 617046
Onset in the first 5 years of lifeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 77, autosomal recessive, 617046
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Source Expert Review Red was added to FARS2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to FARS2.
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.
Louise Daugherty: Comment on phenotypes: amended
gene: FARS2 was added gene: FARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 26553276; 29126765; 30250868; 25851414 Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046