BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: TMEM165

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_candidate; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 5:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIk, 614727

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:01 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Congenital disorder of glycosylation, type IIk, 614727

OMIM

614726

Clinvar variants

Variants in TMEM165

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMEM165 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source