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Newborns main panel

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

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 2 p.m. | Last Modified: 25 Sep 2024, 2 p.m.
Panel Version: 0.469
Special Consideration: Multiple MOIs included.

Additional Information: AD (GOF) and AR (LOF) forms of Congenital myasthenic syndrome are included.
Created: 25 Sep 2024, 1:59 p.m. | Last Modified: 25 Sep 2024, 1:59 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 1:59 p.m.
Last Modified: 25 Sep 2024, 1:59 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and gain-of-function (GOF) for autosomal dominant MOI.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:19 a.m.
Panel Version: 0.146
PMID: 33296147 - 2 recessive cases. PMID: 10562302 - 1 recessive case. PMID: 27375219 - 1 dominant case and 4 others from literature in supplement
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:19 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome-2, autosomal recessive
Tags
special_consideration
OMIM
100710
Clinvar variants
Variants in CHRNB1
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CHRNB1.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CHRNB1 were changed from Congenital myasthenic syndrome-2 to Congenital myasthenic syndrome-2, autosomal recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital myasthenic syndrome-2 for gene: CHRNB1

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CHRNB1. Mode of inheritance for gene CHRNB1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital myasthenic syndrome-2 for gene: CHRNB1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CHRNB1. Added phenotypes Congenital myasthenic syndrome-2 for gene: CHRNB1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: CHRNB1 was added gene: CHRNB1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Congenital myasthenic syndrome-2