Congenital Disorders of Glycosylation
Gene: TMEM199
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
Gene: tmem199 has been classified as Green List (High Evidence).
Gene: tmem199 has been classified as Green List (High Evidence).
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