Clefting
Gene: GDF1
GDF1 (growth differentiation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000130283
EnsemblGeneIds (GRCh37): ENSG00000130283
OMIM: 602880, Gene2Phenotype
GDF1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000130283
EnsemblGeneIds (GRCh37): ENSG00000130283
OMIM: 602880, Gene2Phenotype
GDF1 is in 10 panels
1 review
Olivia Niblock (Genomics England Curator)
None of the main four sources link mutations in this gene to clefting phenotypes. There is one paper (cited) where a study has found that in murine models, dual mutations in GDF1 and Nodal can produce axial midline abnormalities, which can include cleft lip.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
Unknown
Phenotypes
CONOTRUNCAL HEART MALFORMATIONS; CTHM
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- CONOTRUNCAL HEART MALFORMATIONS
- CTHM
- OMIM
- 602880
- Clinvar variants
- Variants in GDF1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 1
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
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GDF1 was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GDF1 was created by ellenmcdonagh