Primary lymphoedema

Gene: FOXC2

Green List (high evidence)

FOXC2 (forkhead box C2)
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Pia Ostergaard (St George's)

Green List (high evidence)

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

Phenotypes
Primary lymphoedema; Lymphoedema distichiasis syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Lymphedema-distichiasis syndrome, 153400
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
OMIM
602402
Clinvar variants
Variants in FOXC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to FOXC2. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Feb 2017, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

FOXC2 was added to Lymphatic Disorderspanel. Sources: Eligibility statement prior genetic testing

2 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FOXC2 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FOXC2 was created by sleigh