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Regression

Gene: SPG11

Green List (high evidence)

SPG11 (SPG11, spatacsin vesicle trafficking associated)
EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Complex neurological phenotypes with onset in first and second decade, characterised by gradual deterioration.
Sources: Expert Review
Created: 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

History Filter Activity

3 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spg11 has been classified as Green List (High Evidence).

3 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spg11 has been classified as Green List (High Evidence).

3 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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