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Fetal anomalies v1.860 GREB1L Eleanor Williams Tag gene-checked tag was added to gene: GREB1L.
Fetal anomalies v1.836 GREB1L Arina Puzriakova Tag for-review was removed from gene: GREB1L.
Fetal anomalies v1.836 GREB1L Arina Puzriakova commented on gene: GREB1L
Fetal anomalies v1.835 GREB1L Arina Puzriakova Source Expert Review Green was added to GREB1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.771 GREB1L Arina Puzriakova Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, 617805; renal agenesis to Renal hypodysplasia/aplasia 3, OMIM:617805; Renal agenesis, MONDO:0018470
Fetal anomalies v1.749 GREB1L Rhiannon Mellis commented on gene: GREB1L: This gene and phenotype were re-reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene as per previous reviews (unclear on reason for change from Green to Amber previously)
Fetal anomalies v1.719 GREB1L Ivone Leong Publications for gene: GREB1L were set to 29261186; 29100091; 31424080; 32378186
Fetal anomalies v1.717 GREB1L Rhiannon Mellis edited their review of gene: GREB1L: Added comment: A further prenatal case reported in PMID 31974414 (Vora et al 2020) - c.4881_4882del; [p.H1627fs] inherited from parent, 2 affected pregnancies with bilateral renal agenesis plus a living child with single kidney.; Changed rating: GREEN; Changed publications to: PMID: 31424080, 32378186, 31974414
Fetal anomalies v1.214 GREB1L Rhiannon Mellis changed review comment from: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). However I note this gene has recently been changed from Green to Amber at NHSE request.

PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence.
PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.; to: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below).

PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence.
PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.
Fetal anomalies v1.175 GREB1L Arina Puzriakova Publications for gene: GREB1L were set to 29261186; 29100091
Fetal anomalies v1.97 GREB1L Rhiannon Mellis reviewed gene: GREB1L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31424080, 32378186; Phenotypes: Renal agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.84 GREB1L Catherine Snow Classified gene: GREB1L as Amber List (moderate evidence)
Fetal anomalies v1.84 GREB1L Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.84 GREB1L Catherine Snow Gene: greb1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.67 GREB1L Rebecca Foulger commented on gene: GREB1L: Added 'for-review' tag: Gene has been added and assessed by Curation team but not yet reviewed by clinical team.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Tag for-review tag was added to gene: GREB1L.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Classified gene: GREB1L as Green List (high evidence)
Fetal anomalies v1.67 GREB1L Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following curation of PMID:29100091 which presents additional fetal cases of renal agenesis and GREB1L variants. Sufficient evidence for association of GREB1L with kidney agenesis, and phenotype can present fetally.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Gene: greb1l has been classified as Green List (High Evidence).
Fetal anomalies v1.66 GREB1L Rebecca Foulger Publications for gene: GREB1L were set to 29261186
Fetal anomalies v1.65 GREB1L Rebecca Foulger commented on gene: GREB1L: PMID:29100091. Tomasi et al., 2017. WES or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L.
Fetal cases with bilateral kidney agenesis include p.Gln528Argfs*12 (also present in their alive brother with unilateral kidney agenesis) and splice variant c.4369−1G>C.
Fetal anomalies v1.65 GREB1L Rebecca Foulger Classified gene: GREB1L as Amber List (moderate evidence)
Fetal anomalies v1.65 GREB1L Rebecca Foulger Added comment: Comment on list classification: Added to panel and set rating to Amber. Not yet associated with a disorder in Gene2Phenotype, but 2 fetal cases presented in PMID:29261186. Renal agenesis phenotype is relevant to the panel. Therefore Amber awaiting further cases.
Fetal anomalies v1.65 GREB1L Rebecca Foulger Gene: greb1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.64 GREB1L Rebecca Foulger gene: GREB1L was added
gene: GREB1L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis
Added comment: Added to Fetal panel based on PMID:29261186 (Boissel et al., 2018) who performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases presenting with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X).
Sources: Literature