Intellectual disability
Gene: RPL10

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

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: As reviewed by Sarah Leigh and Dmitrijs Rots, all the cases reported previously in literature and recently in PMID:35876338 were males with hemizygous RPL10 variants. The females were carriers and showed fully skewed X inactivation of the mutation-bearing X chromosomes.

In addition, this gene has been associated with relevant phenotypes in both OMIM (MIM #300998) and Gene2Phenotype (with 'definitive' rating on the DD panel). The MOI has been recorded as 'X-linked recessive' in OMIM.

The MOI should therefore be updated from 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' in the next GMS review.
Created: 10 Jan 2024, 1:28 p.m. | Last Modified: 10 Jan 2024, 1:28 p.m.

Panel Version: 5.396

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

Phenotypes
Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998

Created: 10 Jan 2024, 1:21 p.m.
Last Modified: 10 Jan 2024, 1:21 p.m.
Panel version: 5.395

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Novel paper expands phenotype also to retinal anomalies and microcephaly.
Created: 15 Dec 2022, 11:52 a.m. | Last Modified: 15 Dec 2022, 11:52 a.m.

Panel Version: 4.15

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

Phenotypes
ID, dysmorphic features, progressive postnatal microcephaly, and retinal anomalies

Publications

35876338

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 15 Dec 2022, 11:52 a.m.
Last Modified: 15 Dec 2022, 11:52 a.m.
Panel version: 4.15

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype from reviewer
Created: 30 Nov 2017, 3:42 p.m.

Created: 30 Nov 2017, 3:41 p.m.

Panel version: 1.486

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.

Panel Version: 6.11

Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in three unrelated families, all with female
carriers showing fully skewed X inactivation of the variant-bearing X chromosome. Supportive functional evidence also presented.
Created: 22 Aug 2017, 1:40 p.m.

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

Phenotypes
Mental retardation, X-linked, syndromic, 35 300998

Publications

Created: 22 Aug 2017, 1:40 p.m.

Panel version: 6.11

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:13 a.m.

Panel version: 0.306

Details

Mode of Inheritance

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

Sources

NHS GMS
Victorian Clinical Genetics Services
Expert Review Green
Emory Genetics Laboratory

Phenotypes

Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998

OMIM

312173

Clinvar variants

Variants in RPL10

Penetrance

Complete

Publications

Panels with this gene