TMEM165:Ensemblv115

transmembrane protein 165
OMIM: 614726, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TMEM165 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870
Green TMEM165 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk 614727
Green TMEM165 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk, 614727 (3)
Red TMEM165 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 amelogenesis imperfecta
Green TMEM165 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Genomics England PanelApp Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870
Green TMEM165 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk, MIM#614727
Amber TMEM165 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIk MIM#614727 Tags metabolic