Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

This Panel is marked as Internal

Intellectual_disability
Gene: PHF8

PHF8 (PHD finger protein 8)
EnsemblGeneIds (GRCh38): ENSG00000172943
EnsemblGeneIds (GRCh37): ENSG00000172943
OMIM: 300560, Gene2Phenotype
PHF8 is in 4 panels

0 reviews

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

Known gene (Grozeva et al, 2015)
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Mental retardation syndrome, X-linked, Siderius type, 300263
Intellectual disability

OMIM

Clinvar variants

Variants in PHF8

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PHF8 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 PHF8 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)

PHF8 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 PHF8 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)

PHF8 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)

PHF8 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen