Adult onset neurodegenerative disorder
Gene: FA2H
Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation. Onset usually in 1st decade - so red.>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
Dystonia; fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 35, autosomal recessive
Onset between 3 and 11 years of ageCreated: 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
Dystonia; fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 35, autosomal recessive
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 FA2H. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to FA2H.
Source Yorkshire and North East GLH was added to FA2H.
Source NHS GMS was added to FA2H.
Source London North GLH was added to FA2H.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Spastic paraplegia 35, autosomal recessive for gene: FA2H
gene: FA2H was added gene: FA2H was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to Edvardson et al. (2008) Phenotypes for gene: FA2H were set to Dystonia; fatty acid hydroxylase-associated neurodegeneration