RPL10

ribosomal protein L10
OMIM: 312173, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green RPL10 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	1 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 1.2302	1 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 1.295	1 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 1.63	1 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	2 reviews	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	1 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 1.313	2 reviews	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 1.1566	3 reviews	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