PTCHD1 Chromosome X
Patched domain containing 1
Upload your DNA to see your personal genotypes for variants in PTCHD1.
What This Gene Does
This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Solute carrier family 65
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000165186
Associated Conditions (10)
Abnormal brain morphology
Autism
susceptibility to
X-linked 4
Inborn genetic diseases
PTCHD1-related disorder
Intellectual disability
Autism spectrum disorder
Non-syndromic X-linked intellectual disability
Rare genetic intellectual disability
Key Variants
RS1060499778
Conflicting classifications of pathogenicity
Abnormal brain morphology, Autism, susceptibility to
Health Risk
RS138702144
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139310513
Conflicting classifications of pathogenicity
Health Risk
RS147324438
Conflicting classifications of pathogenicity
Autism, susceptibility to, X-linked 4
Health Risk
RS150186077
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150912089
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2518759836
Conflicting classifications of pathogenicity
Autism, susceptibility to, X-linked 4
Health Risk
RS369968343
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373105249
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS727504113
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS750197808
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762133513
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499778 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Autism, susceptibility to |
| RS138702144 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139310513 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147324438 | Health Risk | Conflicting classifications of pathogenicity | Autism, susceptibility to, X-linked 4 |
| RS150186077 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150912089 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2518759836 | Health Risk | Conflicting classifications of pathogenicity | Autism, susceptibility to, X-linked 4 |
| RS369968343 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373105249 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS727504113 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750197808 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762133513 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766581848 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autism, susceptibility to |
| RS908889815 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autism, susceptibility to |
| RS1057517808 | Health Risk | Likely pathogenic | — |
| RS1064796945 | Health Risk | Likely pathogenic | — |
| RS1555912102 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 4 |
| RS1555912699 | Health Risk | Likely pathogenic | — |
| RS1555912737 | Health Risk | Likely pathogenic | — |
| RS1569130365 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1601918200 | Health Risk | Likely pathogenic | — |
| RS1922524280 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1922871430 | Health Risk | Likely pathogenic | — |
| RS1922892999 | Health Risk | Likely pathogenic | Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability |
| RS2518760163 | Health Risk | Likely pathogenic | Rare genetic intellectual disability, Rare genetic intellectual disability |
| RS2518760233 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2518766952 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 4 |
| RS2518767420 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 4 |
| RS2518767828 | Health Risk | Likely pathogenic | — |
| RS751692491 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 4 |
| RS886041610 | Health Risk | Likely pathogenic | — |
| RS1555912049 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1601914175 | Health Risk | Pathogenic | — |
| RS1922885735 | Health Risk | Pathogenic | — |
| RS2518766477 | Health Risk | Pathogenic | Autism, susceptibility to, X-linked 4 |
| RS797044922 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS878854360 | Health Risk | risk factor | Autism, susceptibility to, X-linked 4 |
| RS878854361 | Health Risk | risk factor | Autism, susceptibility to, X-linked 4 |
| RS879255587 | Health Risk | risk factor | Autism, susceptibility to, X-linked 4 |