Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Escobar syndrome 265000, Multiple pterygium syndrome, lethal type 253290, Myasthenia gravis, neonatal transient (2) |
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Escobar syndrome, 265000, MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE, Multiple pterygium syndrome, lethal type, 253290, PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE |
Green in Congenital myaesthenic syndromeComponent of the following Super Panels:
R-numbers: R80 Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes transient neonatal myasthenia gravis, MONDO:0018326 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT |