Pituitary hormone deficiency
Gene: ZIC2
ZIC2 (Zic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 is in 10 panels
1 review
Ivone Leong (Genomics England Curator)
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.Created: 14 Dec 2018, 2:40 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Holoprosencephaly 5 (609637)
- OMIM
- 603073
- Clinvar variants
- Variants in ZIC2
- Penetrance
- None
- Publications
- Panels with this gene
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: zic2 has been classified as Red List (Low Evidence).
14 Dec 2018, Gel status: 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ZIC2 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: 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)