Deafness_IsolatedAndComplex
Gene: GREB1LEnsemblGeneIds (GRCh38): ENSG00000141449
EnsemblGeneIds (GRCh37): ENSG00000141449
GREB1L is in 6 panels
1 review
Manny Jacobs (Victorian Clinical Genetics Services)
7 unrelated families reported for non syndromic AD deafness
Multiple unrelated families reported with CAKUT
Sources: LiteratureCreated: 24 Jun 2022, 1 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Renal hypodysplasia/aplasia 3, OMIM# 617805
- Deafness, autosomal dominant 80, MIM# 619274
- Clinvar variants
- Variants in GREB1L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: greb1l has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: greb1l has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Manny Jacobs (Victorian Clinical Genetics Services)gene: GREB1L was added gene: GREB1L was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREB1L were set to PMID: 29100091; 29955957; 32585897; 35012281 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274 Review for gene: GREB1L was set to GREEN