Coarse facial features including Coffin-Siris-like disorders
Gene: PHF6Comment on mode of inheritance: changed from monoallelic to XLDCreated: 25 Sep 2017, 2:07 p.m.
Comment on list classification: Growing evidence that mutations in females are associated with Coffin Siris like disorderCreated: 23 Nov 2016, 9:41 a.m.
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
Phenotypes for PHF6 were set to intellectual disability; dysmorphism; Coffin-Siris-like disorder
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)
Publications for PHF6 were set to 25099957; 24092917
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)
Mode of inheritance for PHF6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Publications for PHF6 were set to 25099957
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
PHF6 was created by [email protected]
PHF6 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list