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Mendeliome

Gene: RPL13

Green List (high evidence)

RPL13 (ribosomal protein L13)
EnsemblGeneIds (GRCh38): ENSG00000167526
EnsemblGeneIds (GRCh37): ENSG00000167526
OMIM: 113703, Gene2Phenotype
RPL13 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported with de novo variants.
Sources: Literature
Created: 21 Jan 2020, 3:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal Dysplasia with Severe Short Stature
OMIM
113703
Clinvar variants
Variants in RPL13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl13 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl13 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL13 was added gene: RPL13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL13 were set to 31630789 Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature Review for gene: RPL13 was set to GREEN