Amelogenesis imperfecta

Gene: TUFT1

Red List (low evidence)

TUFT1 (tuftelin 1)
EnsemblGeneIds (GRCh38): ENSG00000143367
EnsemblGeneIds (GRCh37): ENSG00000143367
OMIM: 600087, Gene2Phenotype
TUFT1 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • amelogenesis imperfecta
OMIM
600087
Clinvar variants
Variants in TUFT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TUFT1 was added to Amelogenesis Imperfectapanel. Sources: Other

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TUFT1 was created by rfoulger