RPL10

ribosomal protein L10
OMIM: 312173, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RPL10 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, X-linked, syndromic, 35 300998

Red RPL10 in Autism


Version 0.15

Component of the following Super Panels:

  • TEST - Superpanel v2.5
  • review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green RPL10 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35 300998

    Green RPL10 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35 300998

    Green RPL10 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.411

    Component of the following Super Panels:

  • Merge for inborn errors of metabolism v2.99
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35 300998

    Green RPL10 in Inborn errors of metabolism


    Version 1.407

    Component of the following Super Panels:

  • Merge for Molecular autopsy v5.171
  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • Hereditary ataxia and cerebellar anomalies - childhood onset v3.433
  • Merge for Cardiomyopathies - including childhood onset v3.193
  • Epilepsy - early onset or syndromic v2.907
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35

    Red RPL10 in Growth failure in early childhood


    Version 1.3

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35

    Green RPL10 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35, 300998