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Fetal anomalies

Gene: PTCH1

Green List (high evidence)

PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 21 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for HOLOPROSENCEPHALY-7 and Confirmed for BASAL CELL NEVUS SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for BASAL CELL NEVUS SYNDROME, and listed as Uncertain for HOLOPROSENCEPHALY-7.
Created: 8 Nov 2018, 4:45 p.m.

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BASAL CELL NEVUS SYNDROME for gene: PTCH1

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PTCH1 was added gene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7