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  2. Intellectual_disability
  3. ITIH6
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Intellectual_disability

Gene: ITIH6

Red List (low evidence)
ITIH6 (inter-alpha-trypsin inhibitor heavy chain family member 6)
EnsemblGeneIds (GRCh38): ENSG00000102313
EnsemblGeneIds (GRCh37): ENSG00000102313
ITIH6 is in 1 panel

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
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Clinvar variants
Variants in ITIH6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITIH6 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)