Arthrogryposis
Gene: STIM1Updated rating from Amber to Green based on Green rating on 'Neuromuscular arthrogryposis' v0.21 panel.Created: 26 Nov 2019, 2:22 p.m. | Last Modified: 26 Nov 2019, 2:22 p.m.
Panel Version: 2.60
Comment on mode of pathogenicity: Monoallelic missense variants consistent with a gain-of-function effect in Myopathy, tubular aggregate, 160565 and Stormorken syndrome 185070Created: 4 Jan 2018, 1:54 p.m.
Comment on phenotypes: Biallelic variants reported in Immunodeficiency 10 612783Created: 4 Jan 2018, 1:53 p.m.
Comment when marking as ready: Not enough evidence to promote to greenCreated: 16 Jan 2017, 11:40 a.m.
Comment on mode of pathogenicity: Activating mutationsCreated: 22 Dec 2016, 11:11 a.m.
Unable to find documented association with arthrogryposis also listed as causing arthrogryposis on the Guy's panelCreated: 22 Dec 2016, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 1 160565
Publications
Mode of pathogenicity
Other
Gene: stim1 has been classified as Green List (High Evidence).
Mode of pathogenicity for STIM1 was changed to Other - please provide details in the comments
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for STIM1 were set to Myopathy, tubular aggregate, 160565; Stormorken syndrome 185070
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 Amber List (Moderate Evidence).
Mode of pathogenicity for STIM1 was changed to Other - please provide details in the comments
Publications for STIM1 were set to 23332920
Mode of inheritance for STIM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STIM1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
STIM1 was created by ellenmcdonagh