Genes in panel
STRs in panel
Prev Next

Clefting

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

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
BASAL CELL NEVUS SYNDROME; BCNS, HOLOPROSENCEPHALY 7; HPE7

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PTCH1 was created by ellenmcdonagh

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Cleftingpanel. Sources: Expert Review Green