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Mendeliome v1.2393 MEPE Zornitza Stark Phenotypes for gene: MEPE were changed from hereditary congenital facial paresis; otosclerosis to Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related; hereditary congenital facial paresis; otosclerosis
Mendeliome v1.2392 MEPE Zornitza Stark edited their review of gene: MEPE: Changed phenotypes: Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related, hereditary congenital facial paresis, otosclerosis
Mendeliome v0.14665 MEPE Elena Savva Marked gene: MEPE as ready
Mendeliome v0.14665 MEPE Elena Savva Gene: mepe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2625 MEPE Zornitza Stark Classified gene: MEPE as Amber List (moderate evidence)
Mendeliome v0.2625 MEPE Zornitza Stark Gene: mepe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2624 MEPE Zornitza Stark gene: MEPE was added
gene: MEPE was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPE were set to 30287925
Phenotypes for gene: MEPE were set to hereditary congenital facial paresis; otosclerosis
Review for gene: MEPE was set to AMBER
Added comment: Single four-generation family reported with variant in this gene segregating nonprogressive HCFP and mixed hearing loss (HL). Damaging variants (truncating/frameshift) found to be enriched in otosclerosis cohort (p = 0.0006–0.0060).
Sources: Literature