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  3. PHF6
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Genetic Epilepsy

Gene: PHF6

Green List (high evidence)
PHF6 (PHD finger protein 6)
EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected.

More than 20 families reported.
Created: 1 Nov 2021, 3:56 a.m. | Last Modified: 1 Nov 2021, 3:56 a.m.
Panel Version: 0.9559

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Borjeson-Forssman-Lehmann syndrome, MIM# 301900

Publications

Created: 1 Nov 2021, 3:56 a.m.
Last Modified: 1 Nov 2021, 3:56 a.m.
Panel version: Imported from Mendeliome panel version 0.9559

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Epilepsy is part of the phenotypic spectrum for Borjeson-Forssman-Lehmann syndrome (OMIM). At least 18 mutations known to date.
Sources: Literature
Created: 11 Oct 2021, 2:07 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Borjeson-Forssman-Lehmann syndrome MIM#301900

Publications

Created: 11 Oct 2021, 2:07 a.m.

Panel version: 0.1276

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome MIM#301900
OMIM
300414
Clinvar variants
Variants in PHF6
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phf6 has been classified as Green List (High Evidence).

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phf6 has been classified as Green List (High Evidence).

11 Oct 2021, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: PHF6 was added gene: PHF6 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHF6 were set to 32399860 Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome MIM#301900 Penetrance for gene: PHF6 were set to unknown Review for gene: PHF6 was set to GREEN