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Red cell disorders v0.6 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from syndromic congenital dyserythropoietic anaemia to CIMDAG syndrome MIM# 619273
Red cell disorders v0.5 VPS4A Zornitza Stark edited their review of gene: VPS4A: Changed phenotypes: CIMDAG syndrome MIM# 619273
Red cell disorders v0.4 VPS4A Zornitza Stark Marked gene: VPS4A as ready
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.4 VPS4A Zornitza Stark Classified gene: VPS4A as Green List (high evidence)
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.3 VPS4A Zornitza Stark gene: VPS4A was added
gene: VPS4A was added to Rare anaemia_GEL. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to syndromic congenital dyserythropoietic anaemia
Mode of pathogenicity for gene: VPS4A was set to Other
Review for gene: VPS4A was set to GREEN
Added comment: 6 of 9 reported individuals had anaemia as part of a syndromic neurodevelopmental disorder.
Sources: Literature