Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Deafness_IsolatedAndComplex v1.123 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_IsolatedAndComplex v1.122 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to 30535804
Deafness_IsolatedAndComplex v1.121 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_IsolatedAndComplex v0.405 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_IsolatedAndComplex v0.404 ATP2B2 Zornitza Stark reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535804, 15829536; Phenotypes: Dominant deafness, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Marked gene: ATP2B2 as ready
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Classified gene: ATP2B2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.225 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to 30535804
Phenotypes for gene: ATP2B2 were set to progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to Incomplete
Review for gene: ATP2B2 was set to GREEN
Added comment: onset in first decade
LOF
Sources: Literature