Pituitary hormone deficiencyGene: PSTPIP1
Comment on list classification: Demoted from amber to red as no evidence of variants in PSTPAP1 associated with Holoprosencephaly.
Created: 14 Dec 2018, 2:06 p.m.
Ivone Leong: Comment on list classification
Gene: pstpip1 has been classified as Red List (Low Evidence).
gene: PSTPIP1 was added gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly