Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Mendeliome v0.10558 RPL10L Alison Yeung Marked gene: RPL10L as ready
Mendeliome v0.10558 RPL10L Alison Yeung Gene: rpl10l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10558 RPL10L Alison Yeung Classified gene: RPL10L as Amber List (moderate evidence)
Mendeliome v0.10558 RPL10L Alison Yeung Gene: rpl10l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10556 RPL10L Dean Phelan gene: RPL10L was added
gene: RPL10L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL10L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RPL10L were set to PMID:32111475
Phenotypes for gene: RPL10L were set to MONDO_0004983, oligo-/azoospermia
Review for gene: RPL10L was set to AMBER
Added comment: PMID:32111475 - cohort study of patients with oligo-/azoospermia identified a homozygous variant in two brothers with severe oligozoospermia. Three additional patients with oligo-/azoospermia had heterozygous variants. No RPL10L variants were found in the fertile control subjects.

A further search did not identify additional publications.
Sources: Literature
Mendeliome v0.4187 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Mendeliome v0.4187 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Mendeliome v0.4187 RPL10 Zornitza Stark Phenotypes for gene: RPL10 were changed from to Mental retardation, X-linked, syndromic, 35, MIM# 300998
Mendeliome v0.4186 RPL10 Zornitza Stark Publications for gene: RPL10 were set to
Mendeliome v0.4185 RPL10 Zornitza Stark Mode of inheritance for gene: RPL10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4184 RPL10 Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468; Phenotypes: Mental retardation, X-linked, syndromic, 35, MIM# 300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL10 was set to Unknown