Arthrogryposis
Gene: STAC3Although 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
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
Publications for gene: STAC3 were set to 23736855
Tag founder-effect was removed from gene: STAC3.
Gene: stac3 has been classified as Green List (High Evidence).
Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
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.
This gene has been classified as Red List (Low Evidence).
Publications for STAC3 were set to 23736855
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for STAC3 was changed to BIALLELIC, autosomal or pseudoautosomal
STAC3 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Expert
STAC3 was created by ellenmcdonagh