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Intellectual disability - microarray and sequencing v2.455 PACS2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the intellectual disability panel
Intellectual disability - microarray and sequencing v2.455 PACS2 Louise Daugherty Phenotypes for gene: PACS2 were changed from Epileptic encephalopathy, early infantile, 66, 618067 to Epileptic encephalopathy, early infantile, 66, 618067; Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebellum
Intellectual disability - microarray and sequencing v2.442 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability - microarray and sequencing v2.442 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene
Intellectual disability - microarray and sequencing v2.442 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.441 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability - microarray and sequencing v2.441 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene.
Intellectual disability - microarray and sequencing v2.441 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.437 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Epileptic encephalopathy, early infantile, 66, 618067; Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebellum to Epileptic encephalopathy, early infantile, 66, 618067
Intellectual disability - microarray and sequencing v2.436 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Intellectual disability - microarray and sequencing v2.435 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.435 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.434 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.434 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.432 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.432 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing PACS2 Konstantinos Varvagiannis Added gene to panel