Gastrointestinal neuromuscular disease
Gene: RET
Well established gene-disease association. HD and gut dysmotility more broadly are a feature.Created: 30 Jul 2021, 8:35 a.m. | Last Modified: 30 Jul 2021, 8:35 a.m.
Panel Version: 0.57
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Central hypoventilation syndrome, congenital, MIM# 209880; Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Gene: ret has been classified as Green List (High Evidence).
Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623 to Central hypoventilation syndrome, congenital, MIM# 209880; Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Mode of inheritance for gene: RET was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ret has been classified as Green List (High Evidence).
gene: RET was added gene: RET was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RET were set to {Hirschsprung disease, susceptibility to, 1}, 142623