RPL10

ribosomal protein L10
OMIM: 312173, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green RPL10 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.69	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 0.36	review	Not set	Sources Expert Review Red SFARI
Green RPL10 in Differences in sex development Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 4.6 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 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	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 1.617	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 - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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 Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 4.3 Latest signed off version: v4.0 (1 May 2024) 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
Red RPL10 in Growth failure in early childhood Version 3.95 Latest signed off version: v3.0 (22 Mar 2023)	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 6.12 Latest signed off version: v6.0 (1 May 2024) 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 Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green RPL10 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mental retardation, X-linked, syndromic, 35, 300998