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  3. RELT
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Amelogenesis imperfecta

Gene: RELT

Green List (high evidence)
RELT (RELT, TNF receptor)
EnsemblGeneIds (GRCh38): ENSG00000054967
EnsemblGeneIds (GRCh37): ENSG00000054967
OMIM: 611211, Gene2Phenotype
RELT is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 13 Aug 2021, 12:37 a.m.
Last Modified: 13 Aug 2021, 12:37 a.m.
Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIIC, MIM# 618386
OMIM
611211
Clinvar variants
Variants in RELT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: relt has been classified as Green List (High Evidence).

13 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RELT were changed from amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386 to Amelogenesis imperfecta, type IIIC, MIM# 618386

7 May 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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