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Arthrogryposis

Gene: CHRNB1

Green List (high evidence)

CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000170175
EnsemblGeneIds (GRCh37): ENSG00000170175
OMIM: 100710, Gene2Phenotype
CHRNB1 is in 4 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

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, 11:21 a.m.
Offered as diagnostic test by Oxford CMS service. CMS can be associated with arthrogryposis
Created: 4 Jan 2017, 11:20 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 616314; Myasthenic syndrome, congenital, 2A, slow-channel 616313

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BOTH monoallelic and 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
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462
OMIM
100710
Clinvar variants
Variants in CHRNB1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

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.

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CHRNB1 were set to 20301347

4 Jan 2017, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for CHRNB1 was changed to Other - please provide details in the comments

4 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CHRNB1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNB1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CHRNB1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHRNB1 was added to Arthrogryposispanel. Source: UKGTN CHRNB1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHRNB1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNB1 was added to Arthrogryposispanel. Sources: Expert list