Arthrogryposis
Gene: STAC3
STAC3 (SH3 and cysteine rich domain 3)
EnsemblGeneIds (GRCh38): ENSG00000185482
EnsemblGeneIds (GRCh37): ENSG00000185482
OMIM: 615521, Gene2Phenotype
STAC3 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000185482
EnsemblGeneIds (GRCh37): ENSG00000185482
OMIM: 615521, Gene2Phenotype
STAC3 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Arthrogryposis is part of the phenotype.
Sources: Expert listCreated: 12 Jul 2020, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, MIM# 255995
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myopathy, congenital, Baily-Bloch, MIM# 255995
- OMIM
- 615521
- Clinvar variants
- Variants in STAC3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
12 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stac3 has been classified as Green List (High Evidence).
12 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stac3 has been classified as Green List (High Evidence).
12 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STAC3 was added gene: STAC3 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 23736855; 30168660; 28777491 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995 Review for gene: STAC3 was set to GREEN