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  2. Intellectual_disability
  3. PTCHD1
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Intellectual_disability

Gene: PTCHD1

Red List (low evidence)
PTCHD1 (patched domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000165186
EnsemblGeneIds (GRCh37): ENSG00000165186
OMIM: 300828, Gene2Phenotype
PTCHD1 is in 3 panels

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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)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
300828
Clinvar variants
Variants in PTCHD1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTCHD1 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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCHD1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCHD1 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory