Arthrogryposis
Gene: CHRNEEnsemblGeneIds (GRCh38): ENSG00000108556
EnsemblGeneIds (GRCh37): ENSG00000108556
OMIM: 100725, Gene2Phenotype
CHRNE is in 4 panels
1 review
Alice Gardham (Genomics England)
50% of congenital myasthenic syndrome which may be associated with arthrogryposisCreated: 4 Jan 2017, 10:11 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 4A, slow-channel 605809; Myasthenic syndrome, congenital, 4B, fast-channel 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809
- Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
- Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
- OMIM
- 100725
- Clinvar variants
- Variants in CHRNE
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel 605809; Myasthenic syndrome, congenital, 4B, fast-channel 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931 to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for CHRNE were set to 20301347
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel 605809; Myasthenic syndrome, congenital, 4B, fast-channel 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for CHRNE was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)CHRNE was added to Arthrogryposispanel. Source: UKGTN CHRNE was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CHRNE was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHRNE was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CHRNE was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)CHRNE was created by ellenmcdonagh