Pituitary hormone deficiency

Gene: PTCH1

Red List (low evidence)

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

1 review

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from amber to red. PTCH1 is confirmed to be associated with Holoprosencephaly 7 in OMIM and Gene2Phenotype, and it is a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with Holoprosencephaly with a variant in the PTCH1 gene who has panhypopituitarism.
Created: 14 Dec 2018, 1:59 p.m.

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

14 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ptch1 has been classified as Red List (Low Evidence).

14 Dec 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PTCH1 were set to

10 Dec 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: PTCH1 was added gene: PTCH1 was added to Pituitary hormone deficiency. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services 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 (610828)