Congenital disorders of glycosylation
Gene: TMEM165

TMEM165 (transmembrane protein 165)
EnsemblGeneIds (GRCh38): ENSG00000134851
EnsemblGeneIds (GRCh37): ENSG00000134851
OMIM: 614726, Gene2Phenotype
TMEM165 is in 9 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9HC07-1
Created: 9 Jan 2020, 2:57 p.m. | Last Modified: 9 Jan 2020, 2:57 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:57 p.m.
Last Modified: 9 Jan 2020, 2:57 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/Q9HC07-1#Disease
Created: 8 Apr 2021, 9:16 a.m. | Last Modified: 8 Apr 2021, 9:16 a.m.

Panel Version: 2.66

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported in 3 cases plus in vitro evidence provided.
Created: 19 Dec 2016, 12:22 p.m.

Created: 19 Dec 2016, 12:22 p.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Defects in several different types of glycan processing pathways.
Created: 14 Dec 2016, 11:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

27401145

Created: 14 Dec 2016, 11:13 a.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Congenital disorder of glycosylation, type IIk 614727

OMIM

614726

Clinvar variants

Variants in TMEM165

Penetrance

Complete

Publications

Panels with this gene