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Cataracts

Gene: FOXC1

Red List (low evidence)

FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 16 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: No evidence of cataracts with this gene.
Created: 7 Jun 2016, 1:03 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Publications

  • Many for Axenfield-Rieger syndrome, Peters anomaly

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Axenfield-rieger syndrome type 3, iridogoniodysgenesis anomaly, Peters Anomaly, though these diseases don't seem to involve a cataract phenotype.
Created: 29 Apr 2016, 11:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Axenfeld-Rieger syndrome type 3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Axenfeld-Rieger syndrome type 3
OMIM
601090
Clinvar variants
Variants in FOXC1
Penetrance
Complete
Publications
  • Many for Axenfield-Rieger syndrome, Peters anomaly
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

2 Jun 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FOXC1 were set to Axenfeld-Rieger syndrome type 3

2 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FOXC1 were set to Many for Axenfield-Rieger syndrome, Peters anomaly

2 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FOXC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FOXC1 was added to Cataractspanel. Sources: UKGTN