Hydrocephalus_Ventriculomegaly
Gene: ZNF3
ZNF3 (zinc finger protein 3)
EnsemblGeneIds (GRCh38): ENSG00000166526
EnsemblGeneIds (GRCh37): ENSG00000166526
OMIM: 194510, Gene2Phenotype
ZNF3 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000166526
EnsemblGeneIds (GRCh37): ENSG00000166526
OMIM: 194510, Gene2Phenotype
ZNF3 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing.
Sources: LiteratureCreated: 11 Jun 2021, 5:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus; cleft palate; microphthalmia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Hydrocephalus
- cleft palate
- microphthalmia
- OMIM
- 194510
- Clinvar variants
- Variants in ZNF3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Jun 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf3 has been classified as Red List (Low Evidence).
11 Jun 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ZNF3 was added gene: ZNF3 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia Review for gene: ZNF3 was set to RED