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Arthrogryposis

Gene: ORAI1

Green List (high evidence)

ORAI1 (ORAI calcium release-activated calcium modulator 1)
EnsemblGeneIds (GRCh38): ENSG00000276045
EnsemblGeneIds (GRCh37): ENSG00000182500
OMIM: 610277, Gene2Phenotype
ORAI1 is in 7 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Updated 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

Alice Gardham (Genomics England)

I don't know

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 arthrogryposis
Created: 22 Dec 2016, 11:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, tubular aggregate, 1 160565

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Expert
Phenotypes
  • Myopathy, tubular aggregate, 1 160565
OMIM
610277
Clinvar variants
Variants in ORAI1
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: orai1 has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 2

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.

16 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

22 Dec 2016, Gel status: 2

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for ORAI1 were set to Myopathy, tubular aggregate, 1 160565

22 Dec 2016, Gel status: 2

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for ORAI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ORAI1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ORAI1 was added to Arthrogryposispanel. Sources: UKGTN,Expert