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Fetal anomalies

Gene: PTCHD1

Red List (low evidence)

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

ID and GDD are the main features
Created: 7 Feb 2022, 3:35 a.m. | Last Modified: 7 Feb 2022, 3:35 a.m.
Panel Version: 0.3151

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
intellectual disability MIM#300830

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • intellectual disability MIM#300830
OMIM
300828
Clinvar variants
Variants in PTCHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptchd1 has been classified as Red List (Low Evidence).

8 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTCHD1 were changed from AUTISM/ID to intellectual disability MIM#300830

8 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTCHD1 were set to

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTCHD1 was added gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PTCHD1 were set to AUTISM/ID