AutismKB

Evidence Detail for PHF8


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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
>PHF8|23133|nucleotide
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>PHF8|23133|protein
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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.
InheritanceXL
OMIMMental retardation syndrome, X-linked, Siderius type (300263)
DescriptionSiderius-Hamel syndrome (ID with cleft lip or cleft palate)
Reference(s)18498374;
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

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  (e.g. CDH8)

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
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