Congenital disorders of glycosylation
Gene: TMEM199
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
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).Created: 22 Jul 2020, 9:57 a.m. | Last Modified: 22 Jul 2020, 9:57 a.m.
Panel Version: 2.14
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
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 8 Feb 2021, 5:11 p.m. | Last Modified: 8 Feb 2021, 5:11 p.m.
Panel Version: 2.63
Should be 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). Ellen McDonagh (Genomics England Curator), 4 Dec 2019.Created: 17 Dec 2019, 1:55 p.m. | Last Modified: 17 Dec 2019, 1:55 p.m.
Panel Version: 2.0
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 4 variants reported in 3 unrelated familiesCreated: 19 Dec 2016, 3:03 p.m.
Publications
multiple glycan processing pathways affectedCreated: 14 Dec 2016, 2:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q3_21_rating was removed from gene: TMEM199.
Source Expert Review Green was added to TMEM199. Source NHS GMS was added to TMEM199. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: TMEM199.
Phenotypes for gene: TMEM199 were changed from Congenital disorder of glycosylation, type IIp 616829 to Congenital disorder of glycosylation, type IIp OMIM:616829; TMEM199-CDG MONDO:0014790
Publications for gene: TMEM199 were set to 26833330
Gene: tmem199 has been classified as Amber List (Moderate Evidence).
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Publications for TMEM199 were set to 26833330
TMEM199 was added to Congenital disorders of glycosylationpanel. Sources: Radboud University Medical Center, Nijmegen
TMEM199 was created by sleigh
TMEM199 was added to Congenital disorders of glycosylationpanel. Sources: Other