Aortopathy_Connective Tissue Disorders

Gene: IPO8

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472

Publications

Sue White (Victorian Clinical Genetics Services)

I don't know

12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Expert Review
Created: 26 Mar 2021, 4:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472
  • Loeys-Dietz syndrome-like
  • cardiovascular, neurologic, skeletal and immunologic abnormalities
OMIM
605600
Clinvar variants
Variants in IPO8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IPO8 were changed from Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities

29 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IPO8 were set to

29 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ipo8 has been classified as Amber List (Moderate Evidence).

26 Mar 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IPO8 were changed from to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities

26 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ipo8 has been classified as Amber List (Moderate Evidence).

26 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set penetrance

Sue White (Victorian Clinical Genetics Services)

gene: IPO8 was added gene: IPO8 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Penetrance for gene: IPO8 were set to Complete Review for gene: IPO8 was set to AMBER