Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Imprinting disorders v2.0 ZAR1 Gene migrated from ENSG00000182223 to ENSG00000182223 (gene set migration)
Imprinting disorders v1.12 Sangavi Sivagnanasundram Added reviews for gene ZAR1 from panel Mendeliome
Imprinting disorders v0.36 ZAR1 Zornitza Stark Marked gene: ZAR1 as ready
Imprinting disorders v0.36 ZAR1 Zornitza Stark Gene: zar1 has been classified as Red List (Low Evidence).
Imprinting disorders v0.36 ZAR1 Zornitza Stark Classified gene: ZAR1 as Red List (low evidence)
Imprinting disorders v0.36 ZAR1 Zornitza Stark Gene: zar1 has been classified as Red List (Low Evidence).
Imprinting disorders v0.35 ZAR1 Zornitza Stark reviewed gene: ZAR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Imprinting disorders v0.13 ZAR1 Anna Le Fevre 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
Added comment: 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