1. Panels
  2. Newborns additional phenotypes panel 1
  3. CHRNB1
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns additional phenotypes panel 1

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: 0.100
Special Consideration: Multiple MOIs included.

Additional Information: AD (GOF) and AR (LOF) forms of Congenital myasthenic syndrome are included.
Created: 25 Sep 2024, 1:58 p.m. | Last Modified: 25 Sep 2024, 1:59 p.m.
Panel Version: 0.100
Created: 25 Sep 2024, 1:58 p.m.
Last Modified: 25 Sep 2024, 1:59 p.m.
Panel version: 0.100

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: 7 Jul 2023, 9:16 a.m. | Last Modified: 7 Jul 2023, 9:19 a.m.
Panel Version: 0.31
PMID: 33296147 - 2 recessive cases. PMID: 10562302 - 1 recessive case. PMID: 27375219 - 1 dominant case and 4 others from literature in supplement
Created: 7 Jul 2023, 9:16 a.m. | Last Modified: 7 Jul 2023, 9:16 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:16 a.m.
Last Modified: 7 Jul 2023, 9:19 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome-2, autosomal dominant
Tags
special_consideration
OMIM
100710
Clinvar variants
Variants in CHRNB1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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 dominant

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

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

Mafalda Gomes (Genomics England Curator)

gene: CHRNB1 was added gene: CHRNB1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: CHRNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNB1 were set to Congenital myasthenic syndrome-2 Mode of pathogenicity for gene: CHRNB1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments