Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.340 DAP3 Zornitza Stark Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 DAP3 Zornitza Stark edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.336 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature