Arthrogryposis
Gene: CHRNDEnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 5 panels
1 review
Alice Gardham (Genomics England)
Comment on mode of pathogenicity:
Gain-of-function variants in CHRNA1, CHRNB1, CHRND, or CHRNE that alter the kinetic properties of the AChR result in the autosomal dominant slow channel CMS (SCCMS). Loss-of-function variants in the AChR subunit genes (CHRNA1, CHRNB1, CHRND, CHRNE) are associated with autosomal recessive CMS
Created: 4 Jan 2017, 11:25 a.m.
Testing offered by Oxford CMS lab. CMS can be associated with arthrogryposisCreated: 4 Jan 2017, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 3A, slow-channel 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323; Multiple pterygium syndrome, lethal type 253290; Myasthenic syndrome, congenital, 3B, fast-channel 616322
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Multiple pterygium syndrome, lethal type, OMIM:253290
- OMIM
- 100720
- Clinvar variants
- Variants in CHRND
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323; Multiple pterygium syndrome, lethal type 253290; Myasthenic syndrome, congenital, 3B, fast-channel 616322 to Multiple pterygium syndrome, lethal type, OMIM:253290
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 Phenotypes
Alice Gardham (Genomics England)Phenotypes for CHRND were set to Myasthenic syndrome, congenital, 3A, slow-channel 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323; Multiple pterygium syndrome, lethal type 253290; Myasthenic syndrome, congenital, 3B, fast-channel 616322
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for CHRND was changed to Other - please provide details in the comments
Set publications
Alice Gardham (Genomics England)Publications for CHRND were set to 20301347; 16916845
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)CHRND was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CHRND was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHRND was added to Arthrogryposispanel. Source: UKGTN CHRND was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)CHRND was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CHRND was added to Arthrogryposispanel. Sources: Expert list