Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Incidentalome v0.35 DNAJC7 Zornitza Stark Marked gene: DNAJC7 as ready
Incidentalome v0.35 DNAJC7 Zornitza Stark Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.35 DNAJC7 Zornitza Stark Classified gene: DNAJC7 as Amber List (moderate evidence)
Incidentalome v0.35 DNAJC7 Zornitza Stark Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.34 DNAJC7 Zornitza Stark gene: DNAJC7 was added
gene: DNAJC7 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC7 were set to 31768050
Phenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis
Review for gene: DNAJC7 was set to AMBER
Added comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. No segregation or functional data. A small number of individuals with LOF variants are present in gnomad albeit less than expected. Given these are cohort studies, and an adult-onset condition, potentially of variable penetrance, we have taken a cautious approach and rated Amber for now.
Sources: Literature