Hereditary Spastic Paraplegia - paediatric
Gene: MARS
Second family with two affected sibs and compound heterozygous missense variants reported; no functional data.Created: 23 Apr 2023, 9:36 a.m. | Last Modified: 23 Apr 2023, 9:36 a.m.
Panel Version: 1.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 70, autosomal recessive, MIM# 620323
Publications
A single family reported.Created: 19 Apr 2020, 11:13 a.m. | Last Modified: 19 Apr 2020, 11:13 a.m.
Panel Version: 0.74
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia
Publications
Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280 to Spastic paraplegia 70, autosomal recessive, MIM# 620323
Publications for gene: MARS were set to 24482476
Gene: mars has been classified as Amber List (Moderate Evidence).
Gene: mars has been classified as Red List (Low Evidence).
Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia to Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280
gene: MARS was added gene: MARS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to 24482476 Phenotypes for gene: MARS were set to Complicated hereditary spastic paraplegia