Imprinting disorders
Gene: ZNF445EnsemblGeneIds (GRCh38): ENSG00000185219
EnsemblGeneIds (GRCh37): ENSG00000185219
ZNF445 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual.Created: 15 Oct 2021, 8:55 a.m. | Last Modified: 15 Oct 2021, 8:55 a.m.
Panel Version: 0.17
Anna Le Fevre (Victorian Clinical Genetics Services)
Suggested rating: AMBER
Single report (Kagami 2021) of a child with Temple syndrome and MLID found to have a novel homozygous truncating variant in ZNF445. ZNF445 has been shown to play a critical role in the maintenance of postfertilisation methylation imprints (Takahashi 2019). Mechanism and parent of origin effects remain uncertain.
Sources: LiteratureCreated: 20 Sep 2021, 11:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Temple syndrome; Multi locus imprinting disturbance (MLID)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Temple syndrome
- Multi locus imprinting disturbance (MLID)
- Clinvar variants
- Variants in ZNF445
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf445 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf445 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Anna Le Fevre (Victorian Clinical Genetics Services)gene: ZNF445 was added gene: ZNF445 was added to Imprinting disorders. Sources: Literature Mode of inheritance for gene: ZNF445 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF445 were set to PMID: 34039421; 30602440; 30846001 Phenotypes for gene: ZNF445 were set to Temple syndrome; Multi locus imprinting disturbance (MLID) Penetrance for gene: ZNF445 were set to unknown Review for gene: ZNF445 was set to AMBER