Amelogenesis imperfecta

Gene: TMEM165

Red List (low evidence)

TMEM165 (transmembrane protein 165)
EnsemblGeneIds (GRCh38): ENSG00000134851
EnsemblGeneIds (GRCh37): ENSG00000134851
OMIM: 614726, Gene2Phenotype
TMEM165 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Foulquier et al (2012, PMID:22683087) report 1 patient (case 5) of an American girl with congenital disorder of glycosylation type 2k with the additional feature of amelogenesis imperfecta and skeletal abnormalities.
12 Jun 2017, 9:10 a.m.

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

Created

Rebecca Foulger (Genomics England curator)

TMEM165 was created by rfoulger

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TMEM165 was added to Amelogenesis Imperfectapanel. Sources: Other