Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | IL1RAPL1 | Achchuthan Shanmugasundram reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10471494, 18801879, 16470793, 19012350; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 21, OMIM:300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | IL1RAPL1 | Achchuthan Shanmugasundram Publications for gene: IL1RAPL1 were updated from 16470793; 18801879; 10471494; 19012350 to 10471494; 18801879; 16470793; 19012350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | IL1RAPL1 | Rebecca Foulger reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | IL1RAPL1 |
Rebecca Foulger gene: IL1RAPL1 was added gene: IL1RAPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IL1RAPL1 were set to 16470793; 18801879; 10471494; 19012350 Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 300143 |