Vascular skin disorders
Gene: FOXC2EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 13 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before demoting this gene to red.Created: 4 Dec 2024, 10:12 p.m. | Last Modified: 4 Dec 2024, 10:12 p.m.
Panel Version: 1.65
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)
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
Rebecca Foulger (Genomics England curator)
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
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Phenotypes
-
- Lymphoedema-distichiasis syndrome, OMIM:153400
- Tags
- OMIM
- 602402
- Clinvar variants
- Variants in FOXC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Rare genetic inflammatory skin disorders
- Vascular skin disorders
- Unexplained kidney failure in young people
- DDG2P
- Intellectual disability
- Fetal anomalies
- Fetal hydrops
- Clefting
- Primary lymphoedema
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- CAKUT
History Filter Activity
Removed Tag, Removed Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_demote_red was removed from gene: FOXC2. Tag Q1_24_expert_review was removed from gene: FOXC2. Tag to_be_confirmed_NHSE tag was added to gene: FOXC2.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: foxc2 has been classified as Green List (High Evidence).
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.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FOXC2 were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to FOXC2.
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