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Cataracts

Gene: FOXD3

Red List (low evidence)

FOXD3 (forkhead box D3)
EnsemblGeneIds (GRCh38): ENSG00000187140
EnsemblGeneIds (GRCh37): ENSG00000187140
OMIM: 611539, Gene2Phenotype
FOXD3 is in 3 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Insufficient evidence for pathogenicity in human disease reported in the litereature
Created: 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)

Red List (low evidence)

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

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FOXD3 were set to Kloss et al (2012) Mol Vis 18:1740-9

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXD3 was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FOXD3 was created by ellenmcdonagh