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Motor Neurone Disease v1.8 DNAJC7 Sarah Leigh reviewed gene: DNAJC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31768050, 35039179, 34233860, 32897108, 37870677, 35456894; Phenotypes: amyotrophic lateral sclerosis; Mode of inheritance: None
Motor Neurone Disease v0.54 DNAJC7 Zornitza Stark reviewed gene: DNAJC7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Marked gene: DNAJC7 as ready
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Classified gene: DNAJC7 as Amber List (moderate evidence)
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.51 DNAJC7 Seb Lunke gene: DNAJC7 was added
gene: DNAJC7 was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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. However gene described as risk factor, unclear why.

DOI: https://doi.org/10.1212/NXG.0000000000000503
Sources: Literature