Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A 252900 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900, seizures |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A (MPS3A) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mucopolysaccharidosis Type III, Mucopolysaccharidosis, Type III, Mucopolysaccharidosis Type IIIA, MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses), MUCOPOLYSACCHARIDOSIS TYPE 3A |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900, Sanfilippo syndrome type A MONDO:0009655 |
Green in Mucopolysaccharidosis type IIIAR-numbers: R291 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Retinal dystrophy, HP:0000556, retinitis pigmentosa, MONDO:0019200 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 |