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Intellectual disability v3.0 KDM1A Louise Daugherty Tag watchlist was removed from gene: KDM1A.
Intellectual disability v3.0 KDM1A Louise Daugherty commented on gene: KDM1A: As a result of watchlist tag audit the watchlist tag was removed from KDM1A- this is now a green gene with sufficient evidence/review
Intellectual disability v2.468 KDM1A Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM1A.
Intellectual disability v2.464 KDM1A Louise Daugherty Deleted their comment
Intellectual disability v2.463 KDM1A Louise Daugherty Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, 616728 to Cleft palate, psychomotor retardation, and distinctive facial features, 616728; Developmental delay
Intellectual disability v2.462 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.462 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.462 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.461 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.461 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.461 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.460 KDM1A Louise Daugherty Tag watchlist was removed from gene: KDM1A.
Intellectual disability v2.460 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.460 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.460 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.459 KDM1A Louise Daugherty Publications for gene: KDM1A were set to 26077434; 24838796
Intellectual disability v2.459 KDM1A Louise Daugherty Added comment: Comment on phenotypes: added MIMid
Intellectual disability v2.459 KDM1A Louise Daugherty Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, 616728
Intellectual disability v2.458 KDM1A Louise Daugherty edited their review of gene: KDM1A: Added comment: Recommendation that this gene should be Green. Three patients https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902791/, there is functional characterisation of the three described mutations https://www.ncbi.nlm.nih.gov/pubmed/27094131?dopt=Abstract and the patients seem to share a similar phenotype, which recapitulates features of other deleterious mutations in better-characterised lysine demethylase and chromatin remodelling genes. There is also a recurrent de novo variant p.Tyr831Cys which has been reported in two separate "autism spectrum" patients in large cohort studies. The gene is also extensively constrained against both missense and LOF variation in humans http://exac.broadinstitute.org/gene/ENSG00000004487. I think what's been reported so far is probably robust enough to use the gene clinically.Pers comm. Ian Berry (NHS Leeds Genetics Laboratory); Changed rating: GREEN
Intellectual disability KDM1A Louise Daugherty commented on KDM1A