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Autism

Gene: PTCHD1

Amber List (moderate evidence)

PTCHD1 (patched domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000165186
EnsemblGeneIds (GRCh37): ENSG00000165186
OMIM: 300828, Gene2Phenotype
PTCHD1 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/PTCHD1
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Amber
  • SFARI
OMIM
300828
Clinvar variants
Variants in PTCHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PTCHD1 were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

29 Mar 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to PTCHD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PTCHD1 was added gene: PTCHD1 was added to Autism. Sources: SFARI Mode of inheritance for gene: PTCHD1 was set to