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Newborns main panel

Gene: CIITA

Green List (high evidence)
CIITA (class II major histocompatibility complex transactivator)
EnsemblGeneIds (GRCh38): ENSG00000179583
EnsemblGeneIds (GRCh37): ENSG00000179583
OMIM: 600005, Gene2Phenotype
CIITA is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

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
Bare lymphocyte syndrome: an opportunity to discover our immune system - PubMed (nih.gov)
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: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group A
OMIM
600005
Clinvar variants
Variants in CIITA
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group A for gene: CIITA

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group A for gene: CIITA

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bare lymphocyte syndrome, type II, complementation group A for gene: CIITA

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 CIITA. Added phenotypes Bare lymphocyte syndrome, type II, complementation group A for gene: CIITA 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 CIITA. 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 Bare lymphocyte syndrome, type II, complementation group A for gene: CIITA

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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