Fetal anomalies
Gene: ITGA8The 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 panelCreated: 1 Feb 2021, 1:11 p.m. | Last Modified: 1 Feb 2021, 1:11 p.m.
Panel Version: 1.428
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
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 1Created: 11 Dec 2018, 9:05 a.m.
Tag for-review was removed from gene: ITGA8.
Source Expert Review Green was added to ITGA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Gene: itga8 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ITGA8.
Gene: itga8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ITGA8 were changed from RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830 to bilateral renal agenesis; anhydramnios; RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830
Gene: itga8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ITGA8 were changed from RENAL HYPODYSPLASIA/APLASIA 1 to RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830
Publications for gene: ITGA8 were set to
gene: ITGA8 was added gene: ITGA8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1