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

Arrhythmogenic right ventricular cardiomyopathy classifications

arrhythmogenic right ventricular cardiomyopathy
AD
09/06/2019
Evaluated
10/18/2023
Submitted

Atrioventricular block classifications

atrioventricular block
AD
08/20/2020
Evaluated
03/31/2021
Submitted

Atypical Werner syndrome classifications

atypical Werner syndrome
Submitted as: Orphanet:79474
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal dominant Emery-Dreifuss muscular dystrophy classifications

autosomal dominant Emery-Dreifuss muscular dystrophy
Submitted as: Orphanet:98853
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal recessive Emery-Dreifuss muscular dystrophy classifications

autosomal recessive Emery-Dreifuss muscular dystrophy
Submitted as: Orphanet:98855
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal semi-dominant severe lipodystrophic laminopathy classifications

autosomal semi-dominant severe lipodystrophic laminopathy
Submitted as: Orphanet:280365
SD
09/14/2021
Evaluated
09/14/2021
Submitted

Charcot-Marie-Tooth disease type 2B1 classifications

Charcot-Marie-Tooth disease type 2B1
Submitted as: OMIM:605588
AR
02/21/2019
Evaluated
12/24/2020
Submitted
Charcot-Marie-Tooth disease type 2B1
Submitted as: Orphanet:98856
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 2B1
Submitted as: OMIM:605588
AR
07/22/2015
Evaluated
09/11/2023
Submitted
Charcot-Marie-Tooth disease type 2B1
Submitted as: OMIM:605588
AD
12/15/2018
Evaluated
11/30/2023
Submitted
Charcot-Marie-Tooth disease type 2B1
Submitted as: OMIM:605588
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Congenital muscular dystrophy due to LMNA mutation classifications

congenital muscular dystrophy due to LMNA mutation
Submitted as: Orphanet:157973
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Dilated cardiomyopathy classifications

dilated cardiomyopathy
AD
11/06/2020
Evaluated
10/18/2023
Submitted

Dilated cardiomyopathy 1A classifications

dilated cardiomyopathy 1A
Submitted as: OMIM:115200
AD
02/15/2017
Evaluated
12/24/2020
Submitted
dilated cardiomyopathy 1A
Submitted as: Orphanet:300751
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dilated cardiomyopathy 1A
AD
04/25/2022
Evaluated
09/11/2023
Submitted

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome classifications

dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Submitted as: Orphanet:2229
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Emery-Dreifuss muscular dystrophy 2, autosomal dominant classifications

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Submitted as: OMIM:181350
SD
02/15/2017
Evaluated
12/24/2020
Submitted
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Submitted as: OMIM:181350
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Submitted as: OMIM:181350
AD
03/30/2022
Evaluated
11/30/2023
Submitted

Emery-Dreifuss muscular dystrophy 3, autosomal recessive classifications

Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Submitted as: OMIM:616516
AR
06/22/2022
Evaluated
11/30/2023
Submitted

Familial isolated dilated cardiomyopathy classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial partial lipodystrophy, Dunnigan type classifications

familial partial lipodystrophy, Dunnigan type
Submitted as: OMIM:151660
AD
01/29/2021
Evaluated
03/31/2021
Submitted
familial partial lipodystrophy, Dunnigan type
Submitted as: Orphanet:2348
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial partial lipodystrophy, Dunnigan type
Submitted as: OMIM:151660
AD
07/22/2015
Evaluated
09/11/2023
Submitted
familial partial lipodystrophy, Dunnigan type
Submitted as: OMIM:151660
AD
09/24/2023
Evaluated
11/30/2023
Submitted

Heart-hand syndrome, Slovenian type classifications

heart-hand syndrome, Slovenian type
Submitted as: OMIM:610140
AD
08/31/2018
Evaluated
12/24/2020
Submitted
heart-hand syndrome, Slovenian type
Submitted as: Orphanet:168796
AD
09/14/2021
Evaluated
09/14/2021
Submitted
heart-hand syndrome, Slovenian type
Submitted as: OMIM:610140
AD
09/01/2017
Evaluated
09/11/2023
Submitted
heart-hand syndrome, Slovenian type
Submitted as: OMIM:610140
AD
10/07/2022
Evaluated
11/30/2023
Submitted

Hutchinson-Gilford progeria syndrome classifications

Hutchinson-Gilford progeria syndrome
Submitted as: OMIM:176670
SD
08/31/2018
Evaluated
12/24/2020
Submitted
Hutchinson-Gilford progeria syndrome
Submitted as: Orphanet:740
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Hutchinson-Gilford progeria syndrome
Submitted as: OMIM:176670
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Hutchinson-Gilford progeria syndrome
Submitted as: OMIM:176670
AD
10/13/2020
Evaluated
11/30/2023
Submitted

LMNA-related cardiocutaneous progeria syndrome classifications

LMNA-related cardiocutaneous progeria syndrome
Submitted as: Orphanet:363618
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Lethal restrictive dermopathy classifications

lethal restrictive dermopathy
Submitted as: Orphanet:1662
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Mandibuloacral dysplasia with type A lipodystrophy classifications

mandibuloacral dysplasia with type A lipodystrophy
Submitted as: Orphanet:90153
AR
09/14/2021
Evaluated
09/14/2021
Submitted
mandibuloacral dysplasia with type A lipodystrophy
Submitted as: OMIM:248370
AR
10/13/2020
Evaluated
11/30/2023
Submitted

Restrictive dermopathy 1 classifications

restrictive dermopathy 1
Submitted as: OMIM:275210
AD
09/01/2017
Evaluated
09/11/2023
Submitted

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