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 8.8
Latest signed off version: v8.7 (12 Aug 2026)

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 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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