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  3. IPO8
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Pneumothorax

Gene: IPO8

Green List (high evidence)
IPO8 (importin 8)
EnsemblGeneIds (GRCh38): ENSG00000133704
EnsemblGeneIds (GRCh37): ENSG00000133704
OMIM: 605600, Gene2Phenotype
IPO8 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Included on this panel because spontaneous pneumothorax can be a feature of LDS.
Sources: Expert list
Created: 12 Dec 2024, 9:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Loeys-Dietz syndrome MONDO:0018954

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Dec 2024, 9:57 p.m.

Panel version: 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome MONDO:0018954
OMIM
605600
Clinvar variants
Variants in IPO8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ipo8 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IPO8 was added gene: IPO8 was added to Pneumothorax. Sources: Expert list Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IPO8 were set to 20301312 Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome MONDO:0018954 Review for gene: IPO8 was set to GREEN gene: IPO8 was marked as current diagnostic