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  2. Fetal anomalies
  3. CHRNA1
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Fetal anomalies

Gene: CHRNA1

Green List (high evidence)
CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [CHRNA1 should be on the Fetal anomalies panel]. The phenotype would be clear on ultrasound scan and variant interpretation would be easier because of this. In general, arthrogryposis can be variable, but the extent would be relatively obvious on scan and would be the reason for the test request.
Created: 11 Feb 2019, 10:26 a.m.
Additional information to support Green rating: Rated Green on Arthrogryposis panel. 2 unrelated cases in OMIM of CHRNA1 variants causing LETHAL-type multiple pterygium syndrome from PMID:18252226 (2008). Plus a 2018 paper (PMID:30177536) reporting a homozygous CHRNA1 variant in a child who had reduced fetal movements during pregnancy, polyhydramnios and arthrogryposis multiplex congenita (AMC).
Created: 11 Feb 2019, 10:26 a.m.
Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Created: 18 Dec 2018, 9:05 p.m.
DDG2P rating in original PAGE list: Probable for MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
  • Multiple pterygium syndrome, lethal type, 253290
OMIM
100690
Clinvar variants
Variants in CHRNA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CHRNA1 were set to

11 Feb 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CHRNA1 were changed from MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: chrna1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CHRNA1 was added gene: CHRNA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE