Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ORAI1Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 4:39 p.m. | Last Modified: 28 Nov 2019, 4:39 p.m.
Panel Version: 1.136
Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 4:39 p.m. | Last Modified: 28 Nov 2019, 4:39 p.m.
Panel Version: 1.135
new gene addedCurrently provided as part of our LGMD panel at HSS LGMD in Ncl.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert ReviewCreated: 21 Oct 2019, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 2, 615883
Gene: orai1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: orai1 has been classified as Green List (High Evidence).
Source NHS GMS was added to ORAI1. Source Yorkshire and North East GLH was added to ORAI1.
gene: ORAI1 was added gene: ORAI1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, 615883 Review for gene: ORAI1 was set to AMBER