Vascular skin disorders

Gene: FOXC2

Green List (high evidence)

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

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Phenotype is that of lymphoedema.
Created: 2 Jul 2020, 4:13 a.m. | Last Modified: 2 Jul 2020, 4:13 a.m.
Panel Version: 1.3

Phenotypes
Lymphedema-distichiasis syndrome, MIM# 153400

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: FOXC2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

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

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to FOXC2.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FOXC2 was added gene: FOXC2 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXC2 were set to Lymphoedema-distichiasis syndrome