Congenital Disorders of Glycosylation

Gene: TMEM199

Green List (high evidence)

TMEM199 (transmembrane protein 199)
EnsemblGeneIds (GRCh38): ENSG00000244045
EnsemblGeneIds (GRCh37): ENSG00000244045
OMIM: 616815, Gene2Phenotype
TMEM199 is in 2 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

4 patients from 3 unrelated families with a mild metabolic disorder primarily affecting the liver (PMID: 26833330). All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation.

A follow up publication described 3 more unrelated cases with protein glycosylation deficiency, supporting the original paper (PMID: 29321044).

Although this gene is red on PanelApp UK it has 2 green reviews (and no others).
Sources: Literature
Created: 15 Jul 2020, 3:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIp MIM# 616829

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIp MIM# 616829
OMIM
616815
Clinvar variants
Variants in TMEM199
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem199 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem199 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

gene: TMEM199 was added gene: TMEM199 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330; 29321044 Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp MIM# 616829 Review for gene: TMEM199 was set to GREEN gene: TMEM199 was marked as current diagnostic