Evidence Detail for PHF8

View Evidences View Annotations
Basic Information Top
Gene Symbol:PHF8 ( DKFZp686E0868,JHDM1F,KIAA1111,MRXSSD,ZNF422 )
Gene Full Name: PHD finger protein 8
Band: Xp11.22
Quick LinksEntrez ID:23133; OMIM: 300560; Uniprot ID:PHF8_HUMAN; ENSEMBL ID: ENSG00000172943
Sequences Top
Show »

Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMMental retardation syndrome, X-linked, Siderius type (300263)
DescriptionSiderius-Hamel syndrome (ID with cleft lip or cleft palate)
LevelLevel 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000302 X Xp11.22 loss 2 - Overlapping/Recurrent CNVs; Qiao, 2008
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000714 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Edens, 2011
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

Registered with NIF