Gene Symbol:
SPG11
HGNC:11226
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q21.1
Filters:

Genomics England PanelApp classifications

hereditary spastic paraplegia 11
Submitted as: OMIM:604360
AR
02/18/2021
Evaluated
03/31/2021
Submitted
Charcot-Marie-Tooth disease axonal type 2X
Submitted as: OMIM:616668
AR
02/18/2021
Evaluated
03/31/2021
Submitted
amyotrophic lateral sclerosis type 5
Submitted as: OMIM:602099
AR
01/04/2021
Evaluated
03/31/2021
Submitted

Illumina classifications

hereditary spastic paraplegia 11
AR
02/25/2020
Evaluated
10/15/2020
Submitted

Orphanet classifications

hereditary spastic paraplegia 11
Submitted as: Orphanet:2822
AR
09/14/2021
Evaluated
09/14/2021
Submitted
juvenile amyotrophic lateral sclerosis
Submitted as: Orphanet:300605
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease axonal type 2X
Submitted as: Orphanet:466775
AR
09/14/2021
Evaluated
09/14/2021
Submitted

TGMI|G2P classifications

hereditary spastic paraplegia 11
Submitted as: OMIM:604360
AR
07/22/2015
Evaluated
11/25/2020
Submitted

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