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

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Inclusion of FOXC2 should be reviewed by the GMS specialist team due to conflicting reviews.

Lymphedema-distichiasis syndrome caused by heterozygous variants in this gene does not seem to fit the panel scope and is more appropriate for R136 Primary lymphoedema.
Created: 25 Mar 2024, 3:07 p.m. | Last Modified: 25 Mar 2024, 3:07 p.m.
Panel Version: 1.58

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

Details

History Filter Activity

25 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: foxc2 has been classified as Green List (High Evidence).

25 Mar 2024, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_24_demote_red tag was added to gene: FOXC2. Tag Q1_24_expert_review tag was added to gene: FOXC2.

22 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400

22 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FOXC2 were set to

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