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Additional findings_Paediatric

Gene: CHRNE

Green List (high evidence)

CHRNE (cholinergic receptor nicotinic epsilon subunit)
EnsemblGeneIds (GRCh38): ENSG00000108556
EnsemblGeneIds (GRCh37): ENSG00000108556
OMIM: 100725, Gene2Phenotype
CHRNE is in 12 panels

0 reviews

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Congenital myasthenic syndrome for gene: CHRNE

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNE was added gene: CHRNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome