Facial papules
Gene: RET
Distinctive facies including lip mucosal neuromas resulting in thick vermilion of the upper and lower lip, and mucosal neuromas of the lips and tongue are characteristic of MEN2B. Gain of function variants mainly involving codon 918 (~95%) cause the condition.
Sources: Expert listCreated: 19 Jun 2023, 12:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multiple endocrine neoplasia type 2B MONDO:0008082
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Gene: ret has been classified as Green List (High Evidence).
Gene: ret has been classified as Green List (High Evidence).
gene: RET was added gene: RET was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RET were set to 20301434 Phenotypes for gene: RET were set to multiple endocrine neoplasia type 2B MONDO:0008082 Mode of pathogenicity for gene: RET was set to Other Review for gene: RET was set to GREEN gene: RET was marked as current diagnostic