Gene Symbol:
CHRNA1
HGNC:1955
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q31.1
Filters:

Genomics England PanelApp classifications

congenital myasthenic syndrome 1A
Submitted as: OMIM:601462
AD
01/29/2021
Evaluated
03/31/2021
Submitted
myasthenic syndrome, congenital, 1B, fast-channel
Submitted as: OMIM:608930
AD
01/29/2021
Evaluated
03/31/2021
Submitted
myasthenic syndrome, congenital, 1B, fast-channel
Submitted as: OMIM:608930
AR
01/29/2021
Evaluated
03/31/2021
Submitted

Orphanet classifications

lethal multiple pterygium syndrome
Submitted as: Orphanet:33108
AR
09/14/2021
Evaluated
09/14/2021
Submitted
postsynaptic congenital myasthenic syndrome
Submitted as: Orphanet:98913
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

congenital myasthenic syndrome 1A
Submitted as: OMIM:601462
AD
10/26/2020
Evaluated
12/30/2020
Submitted
myasthenic syndrome, congenital, 1B, fast-channel
Submitted as: OMIM:608930
AR
10/26/2020
Evaluated
12/30/2020
Submitted

TGMI|G2P classifications

lethal multiple pterygium syndrome
Submitted as: OMIM:253290
AR
07/22/2015
Evaluated
11/25/2020
Submitted

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