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  2. Ciliary Dyskinesia
  3. AGR2
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Ciliary Dyskinesia

Gene: AGR2

Green List (high evidence)
AGR2 (anterior gradient 2, protein disulphide isomerase family member)
EnsemblGeneIds (GRCh38): ENSG00000106541
EnsemblGeneIds (GRCh37): ENSG00000106541
OMIM: 606358, Gene2Phenotype
AGR2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants.
Sources: Literature
Created: 24 Jan 2022, 5:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233

Publications

Created: 24 Jan 2022, 5:34 a.m.

Panel version: 1.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233
OMIM
606358
Clinvar variants
Variants in AGR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGR2 were changed from CF-like disorder to Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agr2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agr2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGR2 was added gene: AGR2 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGR2 were set to 34952832 Phenotypes for gene: AGR2 were set to CF-like disorder Review for gene: AGR2 was set to GREEN