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Inborn errors of metabolism

Gene: TMEM199

Green List (high evidence)

TMEM199 (transmembrane protein 199)
EnsemblGeneIds (GRCh38): ENSG00000244045
EnsemblGeneIds (GRCh37): ENSG00000244045
OMIM: 616815, Gene2Phenotype
TMEM199 is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM
Created: 4 Dec 2019, 4:40 p.m. | Last Modified: 4 Dec 2019, 4:40 p.m.
Panel Version: 1.423
Comment on list classification: Promoted from Red to Green due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. 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 (PMID:26833330).
Created: 4 Dec 2019, 4:36 p.m. | Last Modified: 4 Dec 2019, 4:36 p.m.
Panel Version: 1.422

Details

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

History Filter Activity

4 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: TMEM199 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM199 was added gene: TMEM199 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330 Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp 616829