Arthrogryposis
Gene: ORAI1Updated rating from Amber to Green based on Green rating on 'Neuromuscular arthrogryposis' v0.21 panel.Created: 26 Nov 2019, 2:19 p.m. | Last Modified: 26 Nov 2019, 2:19 p.m.
Panel Version: 2.58
Comment when marking as ready: Not enough evidence to promote to green.Created: 16 Jan 2017, 11:38 a.m.
No literature about arthrogryposis but listed on Guy's panel as causing arthrogryposisCreated: 22 Dec 2016, 11:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 1 160565
Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: orai1 has been classified as Green List (High Evidence).
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).
Phenotypes for ORAI1 were set to Myopathy, tubular aggregate, 1 160565
Mode of inheritance for ORAI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
ORAI1 was created by ellenmcdonagh
ORAI1 was added to Arthrogryposispanel. Sources: UKGTN,Expert