Paediatric disorders - additional genes
Gene: GREB1L

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

3 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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 2:47 p.m. | Last Modified: 20 Oct 2020, 2:47 p.m.

Panel Version: 1.59

Created: 20 Oct 2020, 2:47 p.m.
Last Modified: 20 Oct 2020, 2:47 p.m.
Panel version: 1.59

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green awaiting GLH review: although the predominant phenotype is renal defects, inner ear malformations are also included in the phenotypic spectrum (PMID:29955957).
Created: 14 May 2020, 3:22 p.m. | Last Modified: 14 May 2020, 3:22 p.m.

Panel Version: 1.37

PMID:29955957. Schrauwen et al., 2018 performed trio-based WES sequencing in young unrelated subjects with inner ear malformations, and identified novel de novo LOF variants in GREB1L (Glu1410fs and Arg328*) in 2 affected subjects with absent cochleae and eighth cranial nerve malformations.
Created: 14 May 2020, 3:21 p.m. | Last Modified: 14 May 2020, 3:21 p.m.

Panel Version: 1.35

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. Family histories and phenotypes suggest incomplete penetrance.
Created: 14 May 2020, 3:16 p.m. | Last Modified: 14 May 2020, 3:18 p.m.

Panel Version: 1.35

PMID:29261186 (Boissel et al., 2018) performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases who presented with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X).
Created: 14 May 2020, 3:16 p.m. | Last Modified: 14 May 2020, 3:16 p.m.

Panel Version: 1.34

Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Created: 12 May 2020, 4:19 p.m. | Last Modified: 12 May 2020, 4:19 p.m.

Panel Version: 1.4

Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106.
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: 14 May 2020, 3:18 p.m.
Panel version: 1.35

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Other

Phenotypes

CAKUT
Renal hypodysplasia/aplasia 3, 617805
inner ear malformations

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.

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GREB1L.

10 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)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

14 May 2020, Gel status: 3