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Newborns main panel

Gene: ORAI1

Amber List (moderate evidence)
ORAI1 (ORAI calcium release-activated calcium modulator 1)
EnsemblGeneIds (GRCh38): ENSG00000276045
EnsemblGeneIds (GRCh37): ENSG00000182500
OMIM: 610277, Gene2Phenotype
ORAI1 is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

This gene does not have a MANE transcript. The transcript that will be used is ENST00000617316.2 (equivalent to RefSeq NM_032790) as this is the only protein coding form, and also has the Ensembl canonical and GENCODE basic tags.
Created: 27 Jul 2023, 12:51 p.m. | Last Modified: 27 Jul 2023, 1:07 p.m.
Panel Version: 0.224
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/33650027/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 27 Jul 2023, 1:07 p.m.
Panel version: 0.224

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 9
Transcripts
  • ENST00000617316.2
  • NM_032790
OMIM
610277
Clinvar variants
Variants in ORAI1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ORAI1. Added phenotypes Immunodeficiency 9 for gene: ORAI1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Jul 2023, Gel status: 3

Set transcript

Mafalda Gomes (Genomics England Curator)

Transcript for gene ORAI1 was changed from None to ENST00000617316.2; NM_032790

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ORAI1. Added phenotypes Immunodeficiency 9 for gene: ORAI1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ORAI1. Added phenotypes Immunodeficiency 9 for gene: ORAI1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ORAI1. Added phenotypes Immunodeficiency 9 for gene: ORAI1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to ORAI1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 9 for gene: ORAI1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ORAI1 was added gene: ORAI1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal