Hereditary Spastic Paraplegia - paediatric
Gene: MARS2
Comment on list classification: CNVs (duplications) are the only reported cause of this condition, which may not be detected using WES.Created: 19 Apr 2020, 8:56 a.m. | Last Modified: 19 Apr 2020, 8:56 a.m.
Panel Version: 0.64
Large duplications identified in 17 French-Canadian families. Spasticity can be present at birth and precede ataxia.
Sources: Expert listCreated: 19 Apr 2020, 8:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive MIM#611390
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive, MIM#611390
Publications
Gene: mars2 has been classified as Green List (High Evidence).
Gene: mars2 has been classified as Green List (High Evidence).
gene: MARS2 was added gene: MARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list SV/CNV tags were added to gene: MARS2. Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 16672289; 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390 Review for gene: MARS2 was set to GREEN