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  3. ZAR1
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Imprinting disorders

Gene: ZAR1

Red List (low evidence)
ZAR1 (zygote arrest 1)
EnsemblGeneIds (GRCh38): ENSG00000182223
EnsemblGeneIds (GRCh37): ENSG00000182223
OMIM: 607520, Gene2Phenotype
ZAR1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 17 Oct 2021, 7:05 a.m. | Last Modified: 17 Oct 2021, 7:05 a.m.
Panel Version: 0.35
Created: 17 Oct 2021, 7:05 a.m.
Last Modified: 17 Oct 2021, 7:05 a.m.
Panel version: 0.35

Anna Le Fevre (Victorian Clinical Genetics Services)

I don't know

Proposed classification: Amber, pending further evidence.

Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) with some features of Beckwith Wiedemann Syndrome.

Shown to be a maternal effect gene that functions at the oocyte to embryo transition.
Sources: Literature
Created: 15 Oct 2021, 2:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multi locus imprinting disturbance in offspring

Publications

Created: 15 Oct 2021, 2:26 a.m.

Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Multi locus imprinting disturbance in offspring
OMIM
607520
Clinvar variants
Variants in ZAR1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zar1 has been classified as Red List (Low Evidence).

17 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zar1 has been classified as Red List (Low Evidence).

15 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Anna Le Fevre (Victorian Clinical Genetics Services)

gene: ZAR1 was added gene: ZAR1 was added to Imprinting disorders. Sources: Literature Mode of inheritance for gene: ZAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZAR1 were set to 29574422; 31598710; 12539046 Phenotypes for gene: ZAR1 were set to Multi locus imprinting disturbance in offspring Penetrance for gene: ZAR1 were set to unknown Review for gene: ZAR1 was set to AMBER