TMEM165

transmembrane protein 165
OMIM: 614726, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TMEM165 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIk, MIM# 614727
    • TMEM165-CDG, MONDO:0013870

    Green TMEM165 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIk, MIM# 614727
    • TMEM165-CDG, MONDO:0013870

    Green TMEM165 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    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 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIk 614727

    Green TMEM165 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type IIk, 614727 (3)

    Red TMEM165 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Congenital disorder of glycosylation, type IIk, MIM# 614727
    • amelogenesis imperfecta

    Green TMEM165 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type IIk, MIM# 614727
    • TMEM165-CDG, MONDO:0013870

    Green TMEM165 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type IIk, 614727 (3)

    Amber TMEM165 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type IIk MIM#614727
    Tags
    • metabolic