Coarse facial features including Coffin-Siris-like disorders

Gene: PHF6

Green List (high evidence)

PHF6 (PHD finger protein 6)
EnsemblGeneIds (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 XLD
Created: 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 disorder
Created: 23 Nov 2016, 9:41 a.m.

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

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

25 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PHF6 were set to intellectual disability; dysmorphism; Coffin-Siris-like disorder

25 Sep 2017, Gel status: 4

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)

25 Sep 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PHF6 were set to 25099957; 24092917

25 Sep 2017, Gel status: 4

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)

25 Sep 2017, Gel status: 4

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

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Nov 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for PHF6 were set to 25099957

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jun 2016, Gel status: 0

Created

alisdair mcneill (Sheffield childrens hospital)

PHF6 was created by [email protected]

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

PHF6 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list