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  3. CHRNB1
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Neuromuscular 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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 28 Apr 2019, 6:36 p.m.
Created: 28 Apr 2019, 6:36 p.m.

Panel version: 0.4

Michael Oldridge (NHS)

Green List (high evidence)

mutations in all other AChR subunits cause LMPS/Escobar/FADS/arthrogryposis. Case with LMPS seen in house.
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
LMPS

Created: 28 Apr 2019, 6:34 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • LMPS
OMIM
100710
Clinvar variants
Variants in CHRNB1
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CHRNB1.

28 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CHRNB1. Rating Changed from Red List (low evidence) to Green List (high evidence)

28 Apr 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: CHRNB1 was added gene: CHRNB1 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to LMPS