Regression
Gene: SPG11
Complex neurological phenotypes with onset in first and second decade, characterised by gradual deterioration.
Sources: Expert ReviewCreated: 3 Mar 2020, 10:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668; Amyotrophic lateral sclerosis 5, juvenile, MIM#602099
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: spg11 has been classified as Green List (High Evidence).
Gene: spg11 has been classified as Green List (High Evidence).
gene: SPG11 was added gene: SPG11 was added to Regression. Sources: Expert Review Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 21381113; 22554690; 19224311; 18067136; 27820618 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668; Amyotrophic lateral sclerosis 5, juvenile, MIM#602099 Review for gene: SPG11 was set to GREEN gene: SPG11 was marked as current diagnostic