Gene Symbol:
PTCHD1
HGNC:26392
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.11
Filters:

Definitive classifications

autism, susceptibility to, X-linked 4
Submitted as: OMIM:300830
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
autism, susceptibility to, X-linked 4
Submitted as: OMIM:300830
XL
05/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autism, susceptibility to, X-linked 4
Submitted as: OMIM:300830
XL
07/22/2015
Evaluated
09/11/2023
Submitted
non-syndromic X-linked intellectual disability
XL
08/15/2018
Evaluated
04/21/2024
Submitted

Strong classifications

autism, susceptibility to, X-linked 4
Submitted as: OMIM:300830
XL
04/22/2021
Evaluated
11/30/2023
Submitted

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