Coarse facial features including Coffin-Siris-like disorders
Gene: PHF6EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 7 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on mode of inheritance: changed from monoallelic to XLDCreated: 25 Sep 2017, 2:07 p.m.
Alice Gardham (Genomics England)
Comment on list classification: Growing evidence that mutations in females are associated with Coffin Siris like disorderCreated: 23 Nov 2016, 9:41 a.m.
alisdair mcneill (Sheffield childrens hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
intellectual disability; dysmorphism
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Phenotypes
-
- intellectual disability
- dysmorphism
- Coffin-Siris-like disorder
- OMIM
- 300414
- Clinvar variants
- Variants in PHF6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PHF6 were set to intellectual disability; dysmorphism; Coffin-Siris-like disorder
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for PHF6 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set publications
Louise Daugherty (Genomics England Curator)Publications for PHF6 were set to 25099957; 24092917
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for PHF6 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for PHF6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for PHF6 were set to 25099957
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
alisdair mcneill (Sheffield childrens hospital)PHF6 was created by [email protected]
Added New Source
alisdair mcneill (Sheffield childrens hospital)PHF6 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list