Multiple pterygium syndrome_Fetal akinesia sequence
Gene: MUSKEnsemblGeneIds (GRCh38): ENSG00000030304
EnsemblGeneIds (GRCh37): ENSG00000030304
OMIM: 601296, Gene2Phenotype
MUSK is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 3 unrelated families reported.Created: 13 Jun 2021, 10:02 a.m. | Last Modified: 13 Jun 2021, 10:02 a.m.
Panel Version: 0.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fetal akinesia deformation sequence 1, MIM# 208150
- MONDO:0100101
- OMIM
- 601296
- Clinvar variants
- Variants in MUSK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: musk has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MUSK were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MUSK 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: MUSK was added gene: MUSK was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MUSK was set to Unknown