Clefting
Gene: GRHL3
GRHL3 (grainyhead like transcription factor 3)
EnsemblGeneIds (GRCh38): ENSG00000158055
EnsemblGeneIds (GRCh37): ENSG00000158055
OMIM: 608317, Gene2Phenotype
GRHL3 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000158055
EnsemblGeneIds (GRCh37): ENSG00000158055
OMIM: 608317, Gene2Phenotype
GRHL3 is in 4 panels
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
VAN DER WOUDE SYNDROME 2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- VAN DER WOUDE SYNDROME 2
- Cleft lip
- OMIM
- 608317
- Clinvar variants
- Variants in GRHL3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
13 Aug 2018, Gel status: 4
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to GRHL3. Panel: Clefting Phenotypes for gene GRHL3 were set to VAN DER WOUDE SYNDROME 2, Cleft lip
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GRHL3 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GRHL3 was created by ellenmcdonagh