RPL10

ribosomal protein L10
OMIM: 312173, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green RPL10 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

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 Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

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 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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 1.642

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 Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35
    Green RPL10 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked, syndromic, 35, OMIM:300998
    • Intellectual disability, X-linked, syndromic, 35, MONDO:0030908
    Green RPL10 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998
    Green RPL10 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review 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
    Red RPL10 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Red RPL10 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

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