Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Exostoses, multiple, type 1 133700, Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700, TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes HEREDITARY MULTIPLE EXOSTOSES TYPE 1, TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies), Exostoses, multiple, type 1 133700 |
Green in Sarcoma susceptibilitySigned-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Chondrosarcoma 215300 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes trichorhinophalangeal syndrome type 2 -150230, Exostoses, multiple, type 1 133700, Exostoses, multiple, type 13370 |