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Skeletal dysplasia

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

1 review

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.

Abnormal skeletal features including thickened calvarium and abnormal vertebrae reported.
Created: 1 Nov 2021, 3:56 a.m. | Last Modified: 17 Aug 2023, 2:11 a.m.
Panel Version: 0.241

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

Phenotypes
Borjeson-Forssman-Lehmann syndrome, MIM# 301900

Publications

Details

History Filter Activity

18 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

18 Aug 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PHF6 were changed from Coffin-Siris syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900

18 Aug 2023, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PHF6 were set to

18 Aug 2023, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

18 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

17 Dec 2019, Gel status: 0

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHF6 was added gene: PHF6 was added to Skeletal dysplasia. Sources: Mode of inheritance for gene: PHF6 was set to Phenotypes for gene: PHF6 were set to Coffin-Siris syndrome