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  3. ORAI1
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Amelogenesis imperfecta

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hypocalcified amelogenesis imperfecta is a feature of this condition, which also has other ectodermal features.
Created: 12 Aug 2021, 11:59 p.m. | Last Modified: 12 Aug 2021, 11:59 p.m.
Panel Version: 0.34

Phenotypes
Immunodeficiency 9, MIM# 612782

Publications

Created: 12 Aug 2021, 11:59 p.m.
Last Modified: 12 Aug 2021, 11:59 p.m.
Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Immunodeficiency 9, MIM# 612782
  • Hypocalcified amelogenesis imperfecta
OMIM
610277
Clinvar variants
Variants in ORAI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, 612782 to Immunodeficiency 9, MIM# 612782; Hypocalcified amelogenesis imperfecta

7 May 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ORAI1 was added gene: ORAI1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORAI1 were set to 26469693; 16582901; 20004786 Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782