Pituitary hormone deficiencyGene: SIX3
Comment on list classification: Demoted from amber to red. SIX3 is confirmed to be associated with Holoprosencephaly in OMIM and Gene2Phenotype and is a green gene on the Holoprosencephaly gene panel (Version 1.6). However, there is no evidence that patients with Holoprosencephaly with variants in the SIX3 gene has pituitary hormone deficiency.
Created: 14 Dec 2018, 2:26 p.m.
Ivone Leong: Comment on list classification
Gene: six3 has been classified as Red List (Low Evidence).
gene: SIX3 was added gene: SIX3 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170)