Clefting disorders
Gene: ZIC2
ZIC2 (Zic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- HOLOPROSENCEPHALY 5
- HPE5
- OMIM
- 603073
- Clinvar variants
- Variants in ZIC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Holoprosencephaly and septo-optic dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Repeat Disorders
- Hydrocephalus_Ventriculomegaly
- Cerebral Palsy
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ZIC2 was added gene: ZIC2 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZIC2 were set to 19955556 Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 5; HPE5