Growth failure in early childhood
Gene: RPL10

RPL10 (ribosomal protein L10)
EnsemblGeneIds (GRCh38): ENSG00000147403
EnsemblGeneIds (GRCh37): ENSG00000147403
OMIM: 312173, Gene2Phenotype
RPL10 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

Created: 30 May 2019, 9:49 a.m.

Panel version: 0.23

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red

Phenotypes

Mental retardation, X-linked, syndromic, 35

OMIM

312173

Clinvar variants

Variants in RPL10

Penetrance

None

Publications

25316788

Panels with this gene

History Filter Activity

30 May 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to RPL10. Rating Changed from Green List (high evidence) to Red List (low evidence)

14 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RPL10 was added gene: RPL10 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25316788 Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35

Growth failure in early childhood Gene: RPL10