Bilateral congenital or childhood onset cataracts
Gene: FOXD3EnsemblGeneIds (GRCh38): ENSG00000187140
EnsemblGeneIds (GRCh37): ENSG00000187140
OMIM: 611539, Gene2Phenotype
FOXD3 is in 3 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Insufficient evidence for pathogenicity in human disease reported in the litereatureCreated: 25 May 2016, 8:10 a.m.
Mode of inheritance
Unknown
Phenotypes
Anterior segment dysgenesis, Peter s anomaly
Publications
- Kloss et al (2012) Mol Vis 18:1740-9
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Added to the red list due to insufficient evidence at the current time.Created: 31 May 2016, 9:35 a.m.
Gene added from the Manchester congenital cataracts gene panel. Not associate with a disease in Gene2Phenotype or OMIM.Created: 29 Apr 2016, 3:05 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Anterior segment dysgenesis, Peter’s anomaly
- OMIM
- 611539
- Clinvar variants
- Variants in FOXD3
- Penetrance
- Complete
- Publications
-
- Kloss et al (2012) Mol Vis 18:1740-9
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FOXD3 were set to Kloss et al (2012) Mol Vis 18:1740-9
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FOXD3 was added to Cataractspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)FOXD3 was created by ellenmcdonagh