Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes TRICHOHEPATOENTERIC SYNDROME 222470 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes TRICHOHEPATOENTERIC SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Trichohepatoenteric syndrome 1, 222470 |
R-numbers: R331 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Trichohepatoenteric syndrome 1, OMM:222470 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease, Trichohepatoenteric syndrome 1 (Other metabolic disorders) |
R-numbers: R15 Signed-off version 6.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Trichohepatoenteric syndrome 1, 222470, Intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, Hypogammaglobulinaemia, Trichohepatoenteric syndrome, immune dysfunction, Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa, Predominantly Antibody Deficiencies |