Congenital disorders of glycosylation

Gene: TMEM199

Added new-gene-name tag, new approved HGNC gene symbol for TMEM199 is VMA12.

Created: 12 Mar 2025, 2:44 p.m. | Last Modified: 12 Mar 2025, 2:44 p.m.

Panel Version: 6.11

Green List (high evidence)

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

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).

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

• 26833330
• 29321044

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

Green List (high evidence)

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 families

Created: 19 Dec 2016, 3:03 p.m.

Publications

• 26833330

Green List (high evidence)

multiple glycan processing pathways affected

Created: 14 Dec 2016, 2:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 26833330