Amelogenesis imperfecta
Gene: TMEM165EnsemblGeneIds (GRCh38): ENSG00000134851
EnsemblGeneIds (GRCh37): ENSG00000134851
OMIM: 614726, Gene2Phenotype
TMEM165 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Only one individual with the disorder is reported as having amelogenesis -- unclear if this a feature of the disorder.Created: 13 Aug 2021, 6:16 a.m. | Last Modified: 13 Aug 2021, 6:16 a.m.
Panel Version: 0.67
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIk, MIM# 614727
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Congenital disorder of glycosylation, type IIk, MIM# 614727
- amelogenesis imperfecta
- OMIM
- 614726
- Clinvar variants
- Variants in TMEM165
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem165 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMEM165 were changed from amelogenesis imperfecta to Congenital disorder of glycosylation, type IIk, MIM# 614727; amelogenesis imperfecta
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TMEM165 was added gene: TMEM165 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM165 were set to 22683087 Phenotypes for gene: TMEM165 were set to amelogenesis imperfecta