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  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. CHRNE
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Multiple pterygium syndrome_Fetal akinesia sequence

Gene: CHRNE

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Well established association with congenital myasthenia, some individuals reported with arthrogryposis but cannot find specific reports of multiple pterygium syndrome.
Created: 13 Jun 2021, 4:57 a.m. | Last Modified: 13 Jun 2021, 4:57 a.m.
Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenia, multiple types

Created: 13 Jun 2021, 4:57 a.m.
Last Modified: 13 Jun 2021, 4:57 a.m.
Panel version: 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myasthenia, multiple types
OMIM
100725
Clinvar variants
Variants in CHRNE
Penetrance
None
Panels with this gene

History Filter Activity

13 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrne has been classified as Amber List (Moderate Evidence).

13 Jun 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRNE were changed from to Congenital myasthenia, multiple types

13 Jun 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHRNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

13 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrne has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNE was added gene: CHRNE was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHRNE was set to Unknown