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| DDG2P v3.12 | KMT2E | Achchuthan Shanmugasundram reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079897, 34321323; Phenotypes: KMT2E-related neurodevelopmental disorder/O'Donnell-Luria-Rodan syndrome, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KMT2E | Achchuthan Shanmugasundram Publications for gene: KMT2E were updated from 31079897 to 31079897; 34321323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.8 | KMT2E | Rebecca Foulger Added comment: Comment on phenotypes: Removed MIM ID 616579 from phenotype field, as MIM:616579 is associated with a different gene (CHAMP1). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.8 | KMT2E | Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY 616579; Neurodevelopmental disorder and Epilepsy 618512 to INTELLECTUAL DISABILITY; Neurodevelopmental disorder and Epilepsy 618512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.114 | KMT2E | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for INTELLECTUAL DISABILITY: confirmed. DDG2P Mode of Pathogenicity/Mutation consequence: loss of function; DDG2P Mode of inheritance/allelic requirement: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.114 | KMT2E | Rebecca Foulger commented on gene: KMT2E: New gene:disorder association added to DDG2P for KMT2E, September 2019: Neurodevelopmental disorder and Epilepsy. Disease confidence rating in DDG2P: possible; DDG2P mutation consequence: uncertain; DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.114 | KMT2E | Rebecca Foulger Publications for gene: KMT2E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.113 | KMT2E | Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY 616579; Neurodevelopmental disorder and Epilepsy 618512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT2E | Rebecca Foulger reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KMT2E |
Rebecca Foulger gene: KMT2E was added gene: KMT2E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY |
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