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Intellectual disability

Gene: IPO8

Amber List (moderate evidence)
IPO8 (importin 8)
EnsemblGeneIds (GRCh38): ENSG00000133704
EnsemblGeneIds (GRCh37): ENSG00000133704
OMIM: 605600, Gene2Phenotype
IPO8 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Evidence from PMIDs: 33875846, 34010604 and 34010605 show that there is insufficient evidence for IPO8 to be green on the intellectual disability (ID) panel. There are 35 unrelated cases with a IPO8 variant, 4/35 with mild ID, 1/35 with severe ID and 7 global developmental delay, not including ID. There is a further case with severe ID, but the patient also has a 1.779Mb deletion in 19q13.4, which could be responsible for the ID (PMID: 34010605).
Created: 9 Sep 2024, 5:02 p.m. | Last Modified: 9 Sep 2024, 5:02 p.m.
Panel Version: 7.27
Created: 9 Sep 2024, 5:02 p.m.
Last Modified: 9 Sep 2024, 5:02 p.m.
Panel version: 7.27

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Intellectual disability is reported in some affected individuals with IPO8-related VISS syndrome (PMID 34010604, 34010605).
Sources: Literature
Created: 30 Aug 2024, 12:36 p.m. | Last Modified: 30 Aug 2024, 12:36 p.m.
Panel Version: 7.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Created: 30 Aug 2024, 12:36 p.m.
Last Modified: 30 Aug 2024, 12:36 p.m.
Panel version: 7.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • VISS syndrome, OMIM:619472
  • VISS syndrome, MONDO:0859177
OMIM
605600
Clinvar variants
Variants in IPO8
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Sep 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IPO8 were set to 34010604; 34010605

9 Sep 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IPO8 were changed from Intellectual disability to VISS syndrome, OMIM:619472; VISS syndrome, MONDO:0859177

9 Sep 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IPO8 were set to PMID 34010604; 34010605

9 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

30 Aug 2024, Gel status: 0

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

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

gene: IPO8 was added gene: IPO8 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IPO8 were set to PMID 34010604; 34010605 Phenotypes for gene: IPO8 were set to Intellectual disability Penetrance for gene: IPO8 were set to unknown