1. Genes and Genomic Entities
  2. TMEM199

TMEM199

transmembrane protein 199
OMIM: 616815, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TMEM199 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Other
    Phenotypes
    • Congenital disorder of glycosylation, type IIp OMIM:616829
    • TMEM199-CDG MONDO:0014790
    Tags
    • new-gene-name
    Green TMEM199 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type IIp 616829
    Tags
    • new-gene-name
    Green TMEM199 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Disorder of Golgi homeostasis
    Tags
    • new-gene-name