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Intellectual_disability

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

1 review

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI from XLD to XLR
Created: 25 Sep 2017, 2:16 p.m.
Created: 25 Sep 2017, 2:16 p.m.

Panel version: 0.1160

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, 301900
  • Intellectual disability
OMIM
300414
Clinvar variants
Variants in PHF6
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Sep 2017, Gel status: 3

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

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PHF6 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PHF6 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PHF6 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PHF6 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen