Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: CHRNA1EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 13 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
13 patients from nine unrelated families with acetylcholine receptor deficiency harbouring the CHRNA1 variant NM_001039523.3:c.257G>A (p.Arg86His) in homozygosity or compound heterozygosity with a predominant pattern of distal upper limb weakness in adulthood, similar to distal myopathy.
Sources: LiteratureCreated: 1 Aug 2024, 1:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are associated with myasthenic syndromes, at least 2 families reported with more severe presentation of multiple pterygium syndrome. These conditions represent a spectrum of severity.Created: 15 Nov 2021, 6:19 a.m. | Last Modified: 15 Nov 2021, 6:19 a.m.
Panel Version: 0.9737
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156
- OMIM
- 100690
- Clinvar variants
- Variants in CHRNA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Congenital ophthalmoplegia
- Multiple pterygium syndrome_Fetal akinesia sequence
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: chrna1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: chrna1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CHRNA1 was added gene: CHRNA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 36634413 Phenotypes for gene: CHRNA1 were set to myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Review for gene: CHRNA1 was set to GREEN gene: CHRNA1 was marked as current diagnostic