RPS6KA3

ribosomal protein S6 kinase A3
OMIM: 300075, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green RPS6KA3 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.69	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Coffin Lowry
Green RPS6KA3 in Hydrocephalus Version 4.6 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Literature Phenotypes Coffin-Lowry syndrome, OMIM:303600
Red RPS6KA3 in Adult onset leukodystrophy Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Coffin-Lowry syndrome, OMIM:303600
Red RPS6KA3 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green RPS6KA3 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Coffin-Lowry syndrome, OMIM:303600
No list RPS6KA3 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green RPS6KA3 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Coffin-Lowry Syndrome 2 RPS6KA3 XLD Coffin-Lowry Syndrome 2 RPS6KA3 XLR
Red RPS6KA3 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.41 Latest signed off version: v4.39 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss
Red RPS6KA3 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Phenotypes Coffin Lowry
Green RPS6KA3 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Coffin-Lowry syndrome, OMIM:303600 Intellectual developmental disorder, X-linked 19, OMIM:300844
Green RPS6KA3 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Coffin-Lowry syndrome, 303600 Mental retardation, X-linked 19, 300844