Gene Symbol:
NEFL
HGNC:7739
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8p21.2
Filters:

Charcot-Marie-Tooth disease classifications

Charcot-Marie-Tooth disease
AD
01/10/2023
Evaluated
10/18/2023
Submitted

Charcot-Marie-Tooth disease type 1F classifications

Charcot-Marie-Tooth disease type 1F
Submitted as: Orphanet:101085
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 1F
Submitted as: OMIM:607734
AR
04/19/2022
Evaluated
11/30/2023
Submitted
Charcot-Marie-Tooth disease type 1F
Submitted as: OMIM:607734
AD
04/19/2022
Evaluated
11/30/2023
Submitted

Charcot-Marie-Tooth disease type 2 classifications

Charcot-Marie-Tooth disease type 2
AR
01/10/2023
Evaluated
10/18/2023
Submitted

Charcot-Marie-Tooth disease type 2B5 classifications

Charcot-Marie-Tooth disease type 2B5
Submitted as: Orphanet:228374
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Charcot-Marie-Tooth disease type 2E classifications

Charcot-Marie-Tooth disease type 2E
Submitted as: Orphanet:99939
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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