Multiple pterygium syndrome_Fetal akinesia sequence
Gene: CHRNA1EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 13 panels
1 review
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: 12 Jun 2021, 3:36 a.m. | Last Modified: 12 Jun 2021, 3:36 a.m.
Panel Version: 0.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Multiple pterygium syndrome, lethal type, MIM# 253290
- MONDO:0009668
- Tags
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CHRNA1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chrna1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CHRNA1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CHRNA1 was added gene: CHRNA1 was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHRNA1 was set to Unknown