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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. GREB1L
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

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 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves. Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis.
Created: 15 Apr 2021, 11:03 p.m. | Last Modified: 15 Apr 2021, 11:03 p.m.
Panel Version: 0.7201
CAKUT: At least 16 families described, and mouse model supports gene-disease association.
Created: 4 Oct 2020, 9:17 p.m. | Last Modified: 10 May 2021, 8:19 a.m.
Panel Version: 0.7567

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274

Publications

Created: 4 Oct 2020, 9:17 p.m.
Last Modified: 10 May 2021, 8:19 a.m.
Panel version: Imported from Mendeliome panel version 0.7201

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

At least 16 families described, and mouse model supports gene-disease association.
Created: 16 Jan 2020, 4:04 a.m. | Last Modified: 16 Jan 2020, 4:04 a.m.
Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal hypodysplasia/aplasia 3, OMIM# 617805

Publications

Created: 16 Jan 2020, 4:04 a.m.
Last Modified: 16 Jan 2020, 4:04 a.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM# 617805
Clinvar variants
Variants in GREB1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GREB1L were set to 29100091

16 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GREB1L were set to

16 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GREB1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GREB1L was added gene: GREB1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GREB1L was set to Unknown