Multiple pterygium syndrome_Fetal akinesia sequence
Gene: MYBPC1EnsemblGeneIds (GRCh38): ENSG00000196091
EnsemblGeneIds (GRCh37): ENSG00000196091
OMIM: 160794, Gene2Phenotype
MYBPC1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported with lethal congenital contractures, same small ethnic group and same variant, founder. However, gene is associated with a range of neuromuscular phenotypes, including milder forms of arthrogryposis, and zebrafish model is supportive.
Sources: Expert ReviewCreated: 14 Jun 2021, 7:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 4, MIM# 614915
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Lethal congenital contracture syndrome 4, MIM# 614915
- OMIM
- 160794
- Clinvar variants
- Variants in MYBPC1
- 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: mybpc1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mybpc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYBPC1 was added gene: MYBPC1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Mode of inheritance for gene: MYBPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 22610851; 23873045 Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4, MIM# 614915 Review for gene: MYBPC1 was set to AMBER