Arthrogryposis
Gene: STAC3EnsemblGeneIds (GRCh38): ENSG00000185482
EnsemblGeneIds (GRCh37): ENSG00000185482
OMIM: 615521, Gene2Phenotype
STAC3 is in 5 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Although the variants were originally only reported from the same population (Lumbee Indian tribe), PMID:28777491 (Telegrafi et al., 2017) report the W284S homozygous variant in a child born of consanguineous parents from Qatar, and in a compound het state in 2 siblings from Puerto Rico. This demonstrates that this variant is not restricted to the Native American population and I have therefore removed the 'founder-effect' tag.Created: 26 Nov 2019, 2:16 p.m. | Last Modified: 26 Nov 2019, 2:16 p.m.
Panel Version: 2.58
Updated rating from Red to Green. STAC3 is Green on the Neuromuscular arthrogryposis V0.21 panel. Bailey-Bloch congenital myopathy, is characterized by phenotypes including arthrogryposis (amongst other features). Sufficient (3) cases of Bailey-Bloch congenital myopathy.Created: 26 Nov 2019, 2:15 p.m. | Last Modified: 26 Nov 2019, 2:15 p.m.
Panel Version: 2.57
Alice Gardham (Genomics England)
Mutation identified in five families from the same population onlyCreated: 22 Dec 2016, 1:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Native American myopathy 255995
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, congenital, Baily-Bloch, 255995
- OMIM
- 615521
- Clinvar variants
- Variants in STAC3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: STAC3 were set to 23736855
Removed Tag
Rebecca Foulger (Genomics England curator)Tag founder-effect was removed from gene: STAC3.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: stac3 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Alice Gardham (Genomics England)Publications for STAC3 were set to 23736855
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for STAC3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)STAC3 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Expert
Created
Ellen McDonagh (Genomics England Curator)STAC3 was created by ellenmcdonagh