Genomics England

RPL10

ribosomal protein L10

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked, syndromic, 35 300998
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked, syndromic, 35, OMIM:300998, Intellectual disability, X-linked, syndromic, 35, MONDO:0030908
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked, syndromic, 35
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked, syndromic, 35 300998