Congenital disorders of glycosylation
Gene: TMEM165GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9HC07-1Created: 9 Jan 2020, 2:57 p.m. | Last Modified: 9 Jan 2020, 2:57 p.m.
Panel Version: 2.0
GlyGen link updated April 2021: https://www.glygen.org/protein/Q9HC07-1#DiseaseCreated: 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.
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
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for TMEM165 were set to 27401145; 22683087
TMEM165 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
TMEM165 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
TMEM165 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
TMEM165 was created by sleigh
TMEM165 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory