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Intellectual disability v6.11 RPL10 Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: RPL10.
Intellectual disability v6.11 RPL10 Sarah Leigh commented on gene: RPL10: 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.
Intellectual disability v6.10 RPL10 Achchuthan Shanmugasundram 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
Intellectual disability v5.399 RPL10 Achchuthan Shanmugasundram 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
Intellectual disability v5.399 RPL10 Achchuthan Shanmugasundram Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35, 300998 to Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
Intellectual disability v5.398 RPL10 Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Intellectual disability v5.398 RPL10 Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Intellectual disability v5.398 RPL10 Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Intellectual disability v5.397 RPL10 Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
Intellectual disability v5.397 RPL10 Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788
Intellectual disability v5.396 RPL10 Achchuthan Shanmugasundram Added comment: 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.
Intellectual disability v5.396 RPL10 Achchuthan Shanmugasundram 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)
Intellectual disability v5.395 RPL10 Achchuthan Shanmugasundram Tag Q4_23_MOI tag was added to gene: RPL10.
Intellectual disability v5.395 RPL10 Achchuthan Shanmugasundram reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v4.15 RPL10 Dmitrijs Rots reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35876338; Phenotypes: ID, dysmorphic features, progressive postnatal microcephaly, and retinal anomalies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v2.468 RPL10 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPL10.
Intellectual disability RPL10 Sarah Leigh classified RPL10 as green
Intellectual disability RPL10 Sarah Leigh classified RPL10 as green
Intellectual disability RPL10 Sarah Leigh reviewed RPL10