Intellectual disability
Gene: RPL10
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
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
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Comment on phenotypes: added phenotype from reviewerCreated: 30 Nov 2017, 3:42 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
Tag Q4_23_MOI was removed from gene: RPL10.
Source NHS GMS was added to RPL10. Mode of inheritance for gene RPL10 was changed 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
Phenotypes for gene: RPL10 were changed from Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998 to Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35, 300998 to Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Publications for gene: RPL10 were set to 25316788
Mode of inheritance for gene: RPL10 was changed 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Tag Q4_23_MOI tag was added to gene: RPL10.
Source Victorian Clinical Genetics Services was added to RPL10.
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
Phenotypes for RPL10 were set to Mental retardation, X-linked, syndromic, 35, 300998
Publications for RPL10 were set to 25316788
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
RPL10 was added to Intellectual disabilitypanel. Source: Expert Review Red
RPL10 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory