| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | NTRK1 | Achchuthan Shanmugasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233776, 19250380, 10330344, 8145823, 10982191, 8696348, 10090906, 10861667; Phenotypes: CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS, OMIM:256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NTRK1 | Achchuthan Shanmugasundram Publications for gene: NTRK1 were updated from 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906 to 19250380; 10233776; 10330344; 8145823; 10982191; 8696348; 10090906; 10861667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NTRK1 | Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NTRK1 |
Rebecca Foulger gene: NTRK1 was added gene: NTRK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906 Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||