Skeletal dysplasia
Gene: PHF6EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Borjeson-Forssman-Lehmann syndrome, MIM# 301900
- OMIM
- 300414
- Clinvar variants
- Variants in PHF6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Hand and foot malformations
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Severe early-onset obesity
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: phf6 has been classified as Green List (High Evidence).
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
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: PHF6 were set to
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
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: phf6 has been classified as Green List (High Evidence).
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