Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Multiple Endocrine Neoplasia |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Multiple Endocrine Neoplasia, MEN2B 162300 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes RENAL AGENESIS 191830, MULTIPLE ENDOCRINE NEOPLASIA IIB 162300 |
Green in Endocrine neoplasiaR-numbers: R217 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes MEN2-like spectrum, Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication, Multiple endocrine neoplasia IIA, 171400, Endocrine Cancer, Multiple Endocrine Neoplasia |
R-numbers: R151 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Multiple endocrine neoplasia IIB (162300), Multiple endocrine neoplasia IIA (171400)/MEN3 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes RENAL AGENESIS, MULTIPLE ENDOCRINE NEOPLASIA IIB |
Green in Hirschsprung diseaseR-numbers: R177 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
R-numbers: R223 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623, Multiple Endocrine Neoplasia |
Green in Multiple endocrine neoplasia type 2R-numbers: R218 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
R-numbers: R438 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes {Hirschsprung disease, susceptibility to, 1}, 142623, {Hirschsprung disease, protection against}, 142623 |
Component of the following Super Panels:
Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Hirschsprung disease, susceptibility to, 1}, OMIM:142623, Multiple endocrine neoplasia IIA, OMIM:171400, Multiple endocrine neoplasia IIB, OMIM:162300, Pheochromocytoma, OMIM:171300 |