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| DDG2P v3.12 | MECP2 | Achchuthan Shanmugasundram reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689435, 10232754, 11313756, 11402105, 19034540, 11007980, 9377804, 10814718, 15034579, 10854091, 29618507, 11238684, 16966553, 12481990, 10508514, 10767337, 11022934, 16630165, 12615169, 15857422, 18989701, 10577905, 11930274, 11807877, 11214906; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED LUBS TYPE, OMIM:300260, CHROMOSOME XQ28 DUPLICATION SYNDROME, OMIM:300815, RETT SYNDROME (RTT), OMIM:312750, ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS, OMIM:300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MECP2 | Achchuthan Shanmugasundram Publications for gene: MECP2 were updated from 11402105; 11238684; 29618507 to 15689435; 10232754; 11313756; 11402105; 19034540; 11007980; 9377804; 10814718; 15034579; 10854091; 29618507; 11238684; 16966553; 12481990; 10508514; 10767337; 11022934; 16630165; 12615169; 15857422; 18989701; 10577905; 11930274; 11807877; 11214906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.33 | MECP2 | Rebecca Foulger Publications for gene: MECP2 were set to 11402105; 11238684 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MECP2 | Rebecca Foulger reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673 for gene: MECP2 Publications for gene MECP2 were changed from 29618507 to 11402105; 11238684 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME 300815 for gene: MECP2 Publications for gene MECP2 were changed from 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 to 29618507 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 for gene: MECP2 Publications for gene MECP2 were changed from 15689435 to 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 for gene: MECP2 Publications for gene MECP2 were changed from 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 to 15689435 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger gene: MECP2 was added gene: MECP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MECP2 were set to 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 Phenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[ 312750 |
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