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Intellectual disability - microarray and sequencing v5.233 RPS6KA3 Arina Puzriakova Tag Q3_23_MOI tag was added to gene: RPS6KA3.
Intellectual disability - microarray and sequencing v5.233 RPS6KA3 Arina Puzriakova Publications for gene: RPS6KA3 were set to
Intellectual disability - microarray and sequencing v5.232 RPS6KA3 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from XLR to XLD (monoallelic variants in females may cause disease) at the next GMS panel update as several affected female carriers have been reported. ID in female carriers can range from mild to severe which is within the scope of the panel (PMIDs: 12210291; 12030896; 12558110; 17318637). This would also match the current MOI on other GMS panels and OMIM.
Intellectual disability - microarray and sequencing v5.232 RPS6KA3 Arina Puzriakova Mode of inheritance for gene: RPS6KA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability - microarray and sequencing v5.231 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome, 303600Mental retardation, X-linked 19, 300844; COFFIN-LOWRY SYNDROME (CLS) to Coffin-Lowry syndrome, OMIM:303600; Intellectual developmental disorder, X-linked 19, OMIM:300844
Intellectual disability - microarray and sequencing v2.468 RPS6KA3 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPS6KA3.
Intellectual disability - microarray and sequencing RPS6KA3 BRIDGE consortium edited their review of RPS6KA3
Intellectual disability - microarray and sequencing RPS6KA3 BRIDGE consortium edited their review of RPS6KA3
Intellectual disability - microarray and sequencing RPS6KA3 BRIDGE consortium reviewed RPS6KA3