CAKUT

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 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by expert reviewer. GREB1L is associated with a relevant phenotype in OMIM (there are >3 cases described there). Based on the expert reviews and literature there is enough to support gene-disease association, therefore this gene has been given a Green status.
Created: 11 May 2020, 8:36 a.m. | Last Modified: 11 May 2020, 8:36 a.m.
Panel Version: 1.86

John Sayer (Newcastle University)

Green List (high evidence)

yes should be a green gene now for CAKUT
renal agenesis in humans
29220675
Created: 28 Apr 2020, 7:46 p.m. | Last Modified: 28 Apr 2020, 7:46 p.m.
Panel Version: 1.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
renal agenesis; uterus agenesis

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 16 families described, and mouse model supports gene-disease association.
Sources: Expert list
Created: 16 Jan 2020, 4:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal hypodysplasia/aplasia 3, MIM# 617805

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia/aplasia 3, 617805
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.

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 May 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, MIM# 617805 to Renal hypodysplasia/aplasia 3, 617805

11 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GREB1L were set to 29100091

16 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GREB1L was added gene: GREB1L was added to CAKUT. Sources: Expert list Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREB1L were set to 29100091 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, MIM# 617805 Review for gene: GREB1L was set to GREEN gene: GREB1L was marked as current diagnostic