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Mendeliome

Gene: RPL10L

Amber List (moderate evidence)

RPL10L (ribosomal protein L10 like)
EnsemblGeneIds (GRCh38): ENSG00000165496
EnsemblGeneIds (GRCh37): ENSG00000165496
RPL10L is in 1 panel

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment on list classification: heterozygous variants in three unrelated patients presenting with azoospermia. Given the common phenotype, need a few more cases to convert to green list.
Created: 7 Jan 2022, 4:14 a.m. | Last Modified: 7 Jan 2022, 4:14 a.m.
Panel Version: 0.10558

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

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
Created: 7 Jan 2022, 3:53 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
MONDO_0004983, oligo-/azoospermia

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • MONDO_0004983, oligo-/azoospermia
Clinvar variants
Variants in RPL10L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: rpl10l has been classified as Amber List (Moderate Evidence).

7 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: rpl10l has been classified as Amber List (Moderate Evidence).

7 Jan 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Dean Phelan (Victorian Clinical Genetics Services)

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