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  3. TMEM167A
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Neonatal diabetes

Gene: TMEM167A

Amber List (moderate evidence)
TMEM167A (transmembrane protein 167A)
EnsemblGeneIds (GRCh38): ENSG00000174695
EnsemblGeneIds (GRCh37): ENSG00000174695
TMEM167A is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 6 unrelated cases with a concordant phenotype caused by biallelic variants in this gene.
Created: 22 Oct 2025, 11:26 a.m. | Last Modified: 22 Oct 2025, 11:26 a.m.
Panel Version: 5.6
PMID: 40924476 (2025) - 6 individuals from 6 unrelated families with biallelic variants in the TMEM167A gene identified by WGS. Clinical features in all affected individuals include neonatal diabetes (diagnosed <6 months) and severe microcephaly. 5/6 also had epilepsy in the neonatal period. TMEM167A is highly expressed in the human pancreas and brain. Both the depletion of TMEM167A in EndoC-βH1 cells and knock-in of the p.Val59Glu patient variant in iPSC-derived β cells increased β cells sensitivity to ER stress. The p.Val59Glu variant disrupted proinsulin trafficking to the Golgi and led to dysfunction in iPSC-β cells.
Sources: Literature
Created: 22 Oct 2025, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328

Publications

Created: 22 Oct 2025, 11:24 a.m.

Panel version: 5.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Tags
Q3_25_promote_green
Clinvar variants
Variants in TMEM167A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Oct 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tmem167a has been classified as Amber List (Moderate Evidence).

22 Oct 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: TMEM167A was added gene: TMEM167A was added to Neonatal diabetes. Sources: Literature Q3_25_promote_green tags were added to gene: TMEM167A. Mode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM167A were set to 40924476 Phenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328 Review for gene: TMEM167A was set to GREEN