RPL10

ribosomal protein L10
OMIM: 312173, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RPL10 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

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

Green RPL10 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked, syndromic, 35, MIM# 300998

Green RPL10 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

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

Green RPL10 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked, syndromic, 35 (MIM#300998)

Amber RPL10 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked, syndromic, 35 (MIM#300998)

Green RPL10 in Growth failure


Version 1.76

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, 35 MIM# 300998
  • severe growth retardation
  • intrauterine growth restriction
  • short stature
  • dysmorphic facial features (prognathism, dental crowding, thin upper lip)
  • microcephaly
  • seizures
  • hypotonia
  • genitourinary abnormalities
  • cerebellar hypoplasia

Green RPL10 in Fetal anomalies


Version 1.255

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

Green RPL10 in Prepair 1000+


Level 2: Screening
Version 1.9

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998