Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Pituitary hormone deficiency v0.57 | ZIC2 | Ivone Leong Classified gene: ZIC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.57 | ZIC2 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. ZIC2 is confirmed to be associated with holoprosencephaly in OMIM and Gene2Phenotype and is a green gene in the holoprosencephaly panel (Version 1.6). However, there is only one case of a patient with holoprosencephaly with a variant in ZIC2 who has pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.57 | ZIC2 | Ivone Leong Gene: zic2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.56 | ZIC2 | Ivone Leong Publications for gene: ZIC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.7 | ZIC2 |
Ivone Leong gene: ZIC2 was added gene: ZIC2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5 (609637) |