Renal and urinary tract disorders
Gene: RET
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment on list classification: No evidence for association with the phenotypeCreated: 5 Aug 2016, 10 a.m.
Comment on phenotypes: G2P lists Renal agenesis, 191830 as an associated phenotype, however, this omim phenotype is linked to ITGA8 and not RETCreated: 5 Aug 2016, 10 a.m.
Comment on mode of inheritance: Renal agenesis = biallelic, multiplr endocrine neoplasis IIB = monoallelic (sources; G2P and OMIM).Created: 29 Mar 2016, 10:30 a.m.
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:28 a.m.
Ellen McDonagh: Comment on list classification
Phenotypes for gene: RET were changed from Multiple endocrine neoplasia IIA, 171400; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; Multiple endocrine neoplasia IIB, 162300; 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; Medullary thyroid carcinoma, 155240; {Hirschsprung disease, susceptibility to, 1}, 142623; Renal Adysplasia to Multiple endocrine neoplasia IIA, 171400; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; Multiple endocrine neoplasia IIB, 162300; Multiple endocrine neoplasia IIA, 171400; Medullary thyroid carcinoma, 155240; Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Medullary thyroid carcinoma, 155240; {Hirschsprung disease, susceptibility to, 1}, 142623; Renal Adysplasia
Added phenotypes Multiple endocrine neoplasia IIA, 171400; Pheochromocytoma, 171300; Central hypoventilation syndrome, congenital, 209880; {Hirschsprung disease, susceptibility to, 1}, 142623; Renal agenesis, 191830; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240; Renal Adysplasia for gene: RET
gene: RET was added gene: RET was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RET were set to 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; Renal Adysplasia