Gene Symbol:
DNM2
HGNC:2974
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19p13.2
Filters:

Definitive classifications

Charcot-Marie-Tooth disease
AD
10/27/2020
Evaluated
08/16/2021
Submitted
autosomal dominant centronuclear myopathy
AD
12/20/2019
Evaluated
08/16/2021
Submitted

Moderate classifications

autosomal dominant centronuclear myopathy
Submitted as: OMIM:160150
AD
08/30/2018
Evaluated
03/02/2021
Submitted
Charcot-Marie-Tooth disease dominant intermediate B
Submitted as: OMIM:606482
AD
08/30/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

Charcot-Marie-Tooth disease dominant intermediate B
Submitted as: Orphanet:100044
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant centronuclear myopathy
Submitted as: Orphanet:169189
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant Charcot-Marie-Tooth disease type 2M
Submitted as: Orphanet:228179
AD
09/14/2021
Evaluated
09/14/2021
Submitted
fetal akinesia-cerebral and retinal hemorrhage syndrome
Submitted as: Orphanet:363409
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

fetal akinesia-cerebral and retinal hemorrhage syndrome
Submitted as: OMIM:615368
AR
08/23/2018
Evaluated
03/02/2021
Submitted
hereditary spastic paraplegia
AD
08/23/2018
Evaluated
09/28/2021
Submitted
fetal akinesia-cerebral and retinal hemorrhage syndrome
Submitted as: OMIM:615368
AR
08/23/2019
Evaluated
02/03/2022
Submitted

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