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Mendeliome

Gene: FOXC2

Green List (high evidence)

FOXC2 (forkhead box C2)
EnsemblGeneIds (GRCh38): ENSG00000176692
EnsemblGeneIds (GRCh37): ENSG00000176692
OMIM: 602402, Gene2Phenotype
FOXC2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lymphoedema-distichiasis is an autosomal dominant disorder that classically presents as lymphoedema of the limbs and double rows of eyelashes (distichiasis). Irritation of the cornea, with corneal ulceration in some cases, brings the patients to the attention of ophthalmologists. Other complications may include cardiac defects, varicose veins, ptosis, cleft palate, spinal extradural cysts, and photophobia.

Well established gene-disease association, multiple families reported.
Created: 4 Jan 2022, 12:53 a.m. | Last Modified: 4 Jan 2022, 12:53 a.m.
Panel Version: 0.10449

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphoedema-distichiasis syndrome, MIM# 153400

Publications

History Filter Activity

4 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXC2 were set to

4 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXC2 was added gene: FOXC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXC2 was set to Unknown