Congenital Disorders of Glycosylation
Gene: TMEM199EnsemblGeneIds (GRCh38): ENSG00000244045
EnsemblGeneIds (GRCh37): ENSG00000244045
OMIM: 616815, Gene2Phenotype
TMEM199 is in 2 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem199 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem199 has been classified as Green List (High Evidence).
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