GREB1L

GREB1 like retinoic acid receptor coactivator
OMIM: 617782, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GREB1L in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM# 617805

Green GREB1L in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM# 617805
  • Deafness, autosomal dominant 80, MIM# 619274

Green GREB1L in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM# 617805
  • Deafness, autosomal dominant 80, MIM# 619274

Green GREB1L in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Renal hypodysplasia/aplasia 3, MIM#617805
  • renal agenesis

Green GREB1L in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 80 MIM#619274
Tags
  • deafness