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Xp21.2 region (includes NR0B1) Gain
ISCA-46302-Gain 2

Fetal anomalies
Gene: ITGA8

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)

ITGA8 is also Green on the 'Unexplained paediatric onset end-stage renal disease v.1.2' GMS panel
Created: 1 Feb 2021, 1:11 p.m. | Last Modified: 1 Feb 2021, 1:11 p.m.

Panel Version: 1.428

Created: 1 Feb 2021, 1:11 p.m.
Last Modified: 1 Feb 2021, 1:11 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT

Additional comment: previously rated Amber due to insufficient evidence but has since been upgraded to Green on the CAKUT panel so suggest upgrading it here too.
Created: 28 Jan 2021, 6:09 p.m. | Last Modified: 28 Jan 2021, 6:09 p.m.

Panel Version: 1.214

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal hypodysplasia/aplasia 1

Created: 28 Jan 2021, 6:09 p.m.
Last Modified: 28 Jan 2021, 6:09 p.m.
Panel version: 1.214

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Relevant phenotype (renal agenesis) but currently insufficient evidence (2 unrelated cases from PMID:24439109, and 'probable' rating in Gene2Phenotype) for diagnostic-grade rating.
Created: 14 May 2020, 4:09 p.m. | Last Modified: 14 May 2020, 4:09 p.m.

Panel Version: 1.71

PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period and presented with BRA and bilateral cryptorchidism.
Created: 14 May 2020, 4:07 p.m. | Last Modified: 14 May 2020, 8:09 p.m.

Panel Version: 1.72

DDG2P rating in original PAGE list: Probable for RENAL HYPODYSPLASIA/APLASIA 1
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.
Last Modified: 14 May 2020, 8:09 p.m.
Panel version: 1.69

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

Renal hypodysplasia/aplasia 1, OMIM:191830
Renal hypodysplasia/aplasia 1, MONDO:0024519

OMIM

604063

Clinvar variants

Variants in ITGA8

Penetrance

None

Publications

24439109

Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: ITGA8.

3 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)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ITGA8 were changed from bilateral renal agenesis; anhydramnios; RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830 to Renal hypodysplasia/aplasia 1, OMIM:191830; Renal hypodysplasia/aplasia 1, MONDO:0024519

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

1 Feb 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

14 May 2020, Gel status: 2