Fetal anomalies
Gene: PHF8

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 1 Apr 2019, 11:26 a.m.

DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.150

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE

OMIM

300560

Clinvar variants

Variants in PHF8

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PHF8 was added gene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE

Fetal anomalies Gene: PHF8