Cerebral Palsy
Gene: ZIC2EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 is in 13 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553).
Sources: LiteratureCreated: 28 Jun 2024, 7:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly, MIM#609637
Publications
- PMID: 38553553
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Holoprosencephaly, MIM#609637
- OMIM
- 603073
- Clinvar variants
- Variants in ZIC2
- Penetrance
- None
- Publications
-
- PMID: 38553553
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ZIC2 was added gene: ZIC2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZIC2 were set to PMID: 38553553 Phenotypes for gene: ZIC2 were set to Holoprosencephaly, MIM#609637 Review for gene: ZIC2 was set to RED