Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bloom Syndrome, 210900 |
R-numbers: R229, R258 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bloom syndrome, OMIM:210900 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BLOOM SYNDROME 210900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bloom syndrome, OMIM:210900 |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: BM failure syndrome (typ AR), Bloom syndrome, leukaemia, lymphoma, skin squamous cell, other tumour types, Lymphoma, ALL, MDS, AML, Leukaemia, Carcinomas |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bloom syndrome, OMIM:210900 |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bloom syndrome, OMIM:210900 |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bloom syndrome, OMIM:210900, Immunodeficiency, Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability, Combined immunodeficiencies with associated or syndromic features |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bloom syndrome, OMIM:210900, Microcephalic primordial dwarfism |