Gene Symbol:
GLE1
HGNC:4315
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q34.11
Filters:

Definitive classifications

lethal arthrogryposis-anterior horn cell disease syndrome
Submitted as: OMIM:611890
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

lethal congenital contracture syndrome 1
Submitted as: OMIM:253310
AR
06/19/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

amyotrophic lateral sclerosis
Submitted as: Orphanet:803
AD
09/14/2021
Evaluated
09/14/2021
Submitted
lethal congenital contracture syndrome 1
Submitted as: Orphanet:1486
AR
09/14/2021
Evaluated
09/14/2021
Submitted
lethal arthrogryposis-anterior horn cell disease syndrome
Submitted as: Orphanet:53696
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

amyotrophic lateral sclerosis
AD
10/10/2023
Evaluated
10/18/2023
Submitted

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