Gene Symbol:
GJC2
HGNC:17494
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q42.13
Filters:

Hereditary spastic paraplegia 44 classifications

hereditary spastic paraplegia 44
Submitted as: OMIM:613206
AD
07/22/2015
Evaluated
11/25/2020
Submitted
hereditary spastic paraplegia 44
Submitted as: Orphanet:320401
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary spastic paraplegia 44
Submitted as: OMIM:613206
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Hypomyelinating leukodystrophy 2 classifications

hypomyelinating leukodystrophy 2
Submitted as: OMIM:608804
AR
07/22/2015
Evaluated
09/11/2023
Submitted
hypomyelinating leukodystrophy 2
Submitted as: OMIM:608804
AR
01/30/2018
Evaluated
12/24/2020
Submitted
hypomyelinating leukodystrophy 2
Submitted as: Orphanet:280282
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hypomyelinating leukodystrophy 2
Submitted as: OMIM:608804
AR
04/20/2022
Evaluated
11/30/2023
Submitted

Lymphatic malformation classifications

lymphatic malformation
Submitted as: Orphanet:79452
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Lymphatic malformation 3 classifications

lymphatic malformation 3
Submitted as: OMIM:613480
AD
07/22/2015
Evaluated
09/11/2023
Submitted
lymphatic malformation 3
Submitted as: OMIM:613480
AD
04/19/2021
Evaluated
11/30/2023
Submitted

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