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  3. TMEM167A
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Neonatal diabetes

Gene: TMEM167A

Green List (high evidence)
TMEM167A (transmembrane protein 167A)
EnsemblGeneIds (GRCh38): ENSG00000174695
EnsemblGeneIds (GRCh37): ENSG00000174695
TMEM167A is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 11:56 a.m. | Last Modified: 11 Mar 2026, 11:56 a.m.
Panel Version: 5.19
Created: 11 Mar 2026, 11:56 a.m.
Last Modified: 11 Mar 2026, 11:56 a.m.
Panel version: 5.19

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
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Clinvar variants
Variants in TMEM167A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: TMEM167A.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Green was added to TMEM167A. Source NHS GMS was added to TMEM167A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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