Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Component of the following Super Panels:
Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ?Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EXOSTOSES, MULTIPLE, TYPE 2 133701 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EXOSTOSES, MULTIPLE, TYPE 2 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seizures, scoliosis, and macrocephaly syndrome, 616682, autosomal recessive EXT2-related syndrome |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies), Exostoses, multiple, type 2 133701, ?Seizures, scoliosis, and macrocephaly syndrome 616682 |
Green in Multiple exostosesR-numbers: R390 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Sarcoma susceptibilitySigned-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Exostoses, multiple, type 2 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Exostoses, multiple, type 2, OMIM:133701 |