Gene Symbol:
LMNA
HGNC:6636
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q22
Filters:

Definitive classifications

dilated cardiomyopathy 1A
Submitted as: OMIM:115200
AD
02/15/2017
Evaluated
12/24/2020
Submitted
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Submitted as: OMIM:181350
SD
02/15/2017
Evaluated
12/24/2020
Submitted
dilated cardiomyopathy
AD
11/06/2020
Evaluated
08/16/2021
Submitted

Strong classifications

atrioventricular block
AD
08/20/2020
Evaluated
03/31/2021
Submitted
familial partial lipodystrophy, Dunnigan type
Submitted as: OMIM:151660
AD
01/29/2021
Evaluated
03/31/2021
Submitted

Moderate classifications

Hutchinson-Gilford progeria syndrome
Submitted as: OMIM:176670
SD
08/31/2018
Evaluated
12/24/2020
Submitted
Charcot-Marie-Tooth disease type 2B1
Submitted as: OMIM:605588
AR
02/21/2019
Evaluated
12/24/2020
Submitted

Supportive classifications

autosomal dominant Emery-Dreifuss muscular dystrophy
Submitted as: Orphanet:98853
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dilated cardiomyopathy 1A
Submitted as: Orphanet:300751
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal semi-dominant severe lipodystrophic laminopathy
Submitted as: Orphanet:280365
SD
09/14/2021
Evaluated
09/14/2021
Submitted
heart-hand syndrome, Slovenian type
Submitted as: Orphanet:168796
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital muscular dystrophy due to LMNA mutation
Submitted as: Orphanet:157973
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 2B1
Submitted as: Orphanet:98856
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive Emery-Dreifuss muscular dystrophy
Submitted as: Orphanet:98855
AR
09/14/2021
Evaluated
09/14/2021
Submitted
familial partial lipodystrophy, Dunnigan type
Submitted as: Orphanet:2348
AD
09/14/2021
Evaluated
09/14/2021
Submitted
mandibuloacral dysplasia with type A lipodystrophy
Submitted as: Orphanet:90153
AR
09/14/2021
Evaluated
09/14/2021
Submitted
atypical Werner syndrome
Submitted as: Orphanet:79474
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Hutchinson-Gilford progeria syndrome
Submitted as: Orphanet:740
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Submitted as: Orphanet:2229
AR
09/14/2021
Evaluated
09/14/2021
Submitted
lethal restrictive dermopathy
Submitted as: Orphanet:1662
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
LMNA-related cardiocutaneous progeria syndrome
Submitted as: Orphanet:363618
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

arrhythmogenic right ventricular cardiomyopathy
AD
09/06/2019
Evaluated
08/16/2021
Submitted
heart-hand syndrome, Slovenian type
Submitted as: OMIM:610140
AD
08/31/2018
Evaluated
12/24/2020
Submitted

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