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Fetal anomalies

Gene: GREB1L

Green List (high evidence)
GREB1L (growth regulation by estrogen in breast cancer 1 like)
EnsemblGeneIds (GRCh38): ENSG00000141449
EnsemblGeneIds (GRCh37): ENSG00000141449
GREB1L is in 5 panels

4 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
Created: 3 Mar 2022, 11:19 a.m.
Last Modified: 3 Mar 2022, 11:19 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

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)
Created: 29 Oct 2021, 2:53 p.m. | Last Modified: 29 Oct 2021, 2:53 p.m.
Panel Version: 1.749
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.
Created: 22 Sep 2021, 11:09 a.m. | Last Modified: 22 Sep 2021, 11:09 a.m.
Panel Version: 1.717
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.
Created: 2 Oct 2020, 10:38 a.m. | Last Modified: 29 Jan 2021, 9:36 a.m.
Panel Version: 1.214

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal agenesis

Publications

Created: 2 Oct 2020, 10:38 a.m.
Last Modified: 29 Jan 2021, 9:36 a.m.
Panel version: 1.749

Catherine Snow (Genomics England)

Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Created: 19 Aug 2020, 6:18 p.m. | Last Modified: 19 Aug 2020, 6:18 p.m.
Panel Version: 1.84
Created: 19 Aug 2020, 6:18 p.m.
Last Modified: 19 Aug 2020, 6:18 p.m.
Panel version: 1.84

Rebecca Foulger (Genomics England curator)

Added 'for-review' tag: Gene has been added and assessed by Curation team but not yet reviewed by clinical team.
Created: 12 May 2020, 8:35 p.m. | Last Modified: 12 May 2020, 8:35 p.m.
Panel Version: 1.67
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.
Created: 12 May 2020, 8:33 p.m. | Last Modified: 12 May 2020, 8:33 p.m.
Panel Version: 1.67
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.
Created: 12 May 2020, 8:32 p.m. | Last Modified: 12 May 2020, 8:32 p.m.
Panel Version: 1.65
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.
Created: 12 May 2020, 8:28 p.m. | Last Modified: 12 May 2020, 8:28 p.m.
Panel Version: 1.65
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
Created: 12 May 2020, 8:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Renal hypodysplasia/aplasia 3, 617805; renal agenesis

Publications

Created: 12 May 2020, 8:27 p.m.

Panel version: 1.67

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM:617805
  • Renal agenesis, MONDO:0018470
Tags
gene-checked
Clinvar variants
Variants in GREB1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: GREB1L.

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GREB1L.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GREB1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

28 Sep 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GREB1L were set to 29261186; 29100091; 31424080; 32378186

21 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GREB1L were set to 29261186; 29100091

19 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: greb1l 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: GREB1L.

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: greb1l has been classified as Green List (High Evidence).

12 May 2020, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: GREB1L were set to 29261186

12 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: greb1l has been classified as Amber List (Moderate Evidence).

12 May 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

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