CAKUT
Gene: GREB1LComment 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
yes should be a green gene now for CAKUT
renal agenesis in humans
29220675Created: 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
At least 16 families described, and mouse model supports gene-disease association.
Sources: Expert listCreated: 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
Tag gene-checked tag was added to gene: GREB1L.
Gene: greb1l has been classified as Green List (High Evidence).
Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, MIM# 617805 to Renal hypodysplasia/aplasia 3, 617805
Publications for gene: GREB1L were set to 29100091
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