Pituitary hormone deficiencyGene: PTCH1
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.
Ivone Leong: Comment on list classification
Gene: ptch1 has been classified as Red List (Low Evidence).
Publications for gene: PTCH1 were set to
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)