Severe early-onset obesity
Gene: PHF6EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 15 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Truncal obesity is a feature.
At least 18 known pathogenic variantsCreated: 31 Oct 2021, 11:16 p.m. | Last Modified: 31 Oct 2021, 11:16 p.m.
Panel Version: 0.22
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
- Genomics England PanelApp
- Phenotypes
-
- Borjeson-Forssman-Lehmann syndrome, OMIM: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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phf6 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PHF6 were set to
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 Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, OMIM:301900