Adult onset hereditary spastic paraplegia
Gene: FARS2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature did not reveal any adult onset cases - infantile and childhood-onset only
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 17 Aug 2021, 12:48 p.m. | Last Modified: 17 Aug 2021, 12:48 p.m.
Panel Version: 1.35
Phenotypes
Spastic paraplegia 77, autosomal recessive, OMIM:617046
Publications
Childhood onset.Created: 20 Sep 2020, 8:18 a.m. | Last Modified: 20 Sep 2020, 8:18 a.m.
Panel Version: 1.7
Childhood onset.Created: 9 May 2019, 4:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
4 unrelated cases of FARS2 variants causing autosomal recessive HSP in the literature plus functional support. . In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 77, autosomal recessive, 617046
Tag Q3_21_phenotype was removed from gene: FARS2.
Source Expert Review Amber was added to FARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: FARS2.
Source Yorkshire and North East GLH was added to FARS2.
Source Expert Review Green was added to FARS2. Mode of inheritance for gene FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to FARS2.
gene: FARS2 was added gene: FARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: FARS2 was set to