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  3. ITGA8
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Paediatric disorders - additional genes

Gene: ITGA8

Green List (high evidence)
ITGA8 (integrin subunit alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000077943
EnsemblGeneIds (GRCh37): ENSG00000077943
OMIM: 604063, Gene2Phenotype
ITGA8 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
Created: 10 Mar 2022, 3:53 p.m.
Last Modified: 10 Mar 2022, 3:53 p.m.
Panel version: 1.96

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Amber awaiting GLH review. Additional phenotypes were reported in the fetuses and sibling (who died perinatally) from PMID:24439109 (clubbed feet, facial dysmorphism, pulmonary hypoplasia, bilateral cryptorchidism) although renal agenesis is the primary phenotype and only 2 families from one paper.
Created: 14 May 2020, 8:57 p.m. | Last Modified: 14 May 2020, 8:57 p.m.
Panel Version: 1.51
Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Created: 12 May 2020, 4:17 p.m. | Last Modified: 12 May 2020, 4:17 p.m.
Panel Version: 1.4
Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106. Note that ITGA8 is on V14.137 Paediatric panel already but with Amber rating.
Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.
Panel Version: 1.4
Created: 12 May 2020, 3:57 p.m.
Last Modified: 12 May 2020, 3:57 p.m.
Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
  • Renal hypodysplasia/aplasia 1, 191830
OMIM
604063
Clinvar variants
Variants in ITGA8
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: ITGA8.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ITGA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: itga8 has been classified as Amber List (Moderate Evidence).

12 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: itga8 has been classified as Amber List (Moderate Evidence).

12 May 2020, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag for-review tag was added to gene: ITGA8.

12 May 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: ITGA8 was added gene: ITGA8 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to CAKUT; Renal hypodysplasia/aplasia 1, 191830