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  3. CHRNA1
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Congenital ophthalmoplegia

Gene: CHRNA1

Green List (high evidence)
CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ophthalmoplegia is a feature of this condition.
Sources: Expert list
Created: 12 Nov 2020, 1:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462

Created: 12 Nov 2020, 1:52 a.m.

Panel version: 0.46

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CHRNA1.

12 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrna1 has been classified as Green List (High Evidence).

12 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrna1 has been classified as Green List (High Evidence).

12 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNA1 was added gene: CHRNA1 was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: CHRNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462 Review for gene: CHRNA1 was set to GREEN