RPS6KA3

ribosomal protein S6 kinase A3
OMIM: 300075, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green RPS6KA3 in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RPS6KA3 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RPS6KA3 in Mendeliome Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Lowry syndrome MIM# 303600 Intellectual disability short stature delayed bone age hearing deficit hypotonia tapering fingers abnormal facies (hypertelorism, anteverted nares, prominent frontal region)
Green RPS6KA3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Coffin-Lowry syndrome MIM# 303600 Intellectual disability short stature delayed bone age hearing deficit hypotonia tapering fingers abnormal facies (hypertelorism, anteverted nares, prominent frontal region)
Green RPS6KA3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RPS6KA3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Coffin-Lowry syndrome MIM# 303600
Red RPS6KA3 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Royal Melbourne Hospital Expert Review Red Royal Melbourne Hospital Phenotypes Coffin-Lowry syndrome, 303600
Green RPS6KA3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Coffin-Lowry syndrome
Green RPS6KA3 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Coffin-Lowry syndrome
Green RPS6KA3 in Growth failure Version 2.0	1 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 Genomics England PanelApp Phenotypes Coffin-Lowry syndrome MIM# 303600 Intellectual disability short stature delayed bone age hearing deficit hypotonia tapering fingers abnormal facies (hypertelorism, anteverted nares, prominent frontal region)
Green RPS6KA3 in Fetal anomalies Version 2.0	1 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 Genomics England PanelApp Phenotypes Coffin-Lowry syndrome MIM#303600 Intellectual developmental disorder, X-linked 19 MIM#300844
Green RPS6KA3 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Coffin-Lowry syndrome, MIM#303600 Intellectual developmental disorder, X-linked 19 MIM#300844
Red RPS6KA3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Coffin-Lowry syndrome MIM# 303600
Green RPS6KA3 in Prepair 500+ Level 2: Screening Version 3.0	1 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 Mackenzie's Mission Phenotypes Coffin-Lowry syndrome, MIM#303600 Intellectual developmental disorder, X-linked 19 MIM#300844