Vascular skin disorders
Gene: FOXC2Comment 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
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
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
Gene: foxc2 has been classified as Green List (High Evidence).
Tag Q1_24_demote_red tag was added to gene: FOXC2. Tag Q1_24_expert_review tag was added to gene: FOXC2.
Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400
Publications for gene: FOXC2 were set to
Source London North GLH was added to FOXC2.
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