Amelogenesis imperfecta
Gene: RELT
Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides.
At least 3 families and a mouse model.Created: 13 Aug 2021, 12:37 a.m. | Last Modified: 13 Aug 2021, 12:37 a.m.
Panel Version: 0.38
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IIIC, MIM# 618386
Publications
Gene: relt has been classified as Green List (High Evidence).
Phenotypes for gene: RELT were changed from amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386 to Amelogenesis imperfecta, type IIIC, MIM# 618386
gene: RELT was added gene: RELT was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RELT were set to 30506946 Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386