Vitreoretinopathy
Gene: ZNF408EnsemblGeneIds (GRCh38): ENSG00000175213
EnsemblGeneIds (GRCh37): ENSG00000175213
OMIM: 616454, Gene2Phenotype
ZNF408 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 4 unrelated families reported, zebrafish model. Note bi-allelic variants are associated with RP.Created: 6 Jan 2021, 10:39 a.m. | Last Modified: 6 Jan 2021, 10:39 a.m.
Panel Version: 0.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exudative vitreoretinopathy 6, MIM# 616468
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Exudative vitreoretinopathy 6, MIM# 616468
- OMIM
- 616454
- Clinvar variants
- Variants in ZNF408
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf408 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZNF408 were changed from to Exudative vitreoretinopathy 6, MIM# 616468
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ZNF408 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ZNF408 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)gene: ZNF408 was added gene: ZNF408 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZNF408 was set to Unknown