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Fetal anomalies

Gene: TMEM167A

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

2 reviews

Arina Puzriakova (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: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Not in UK panel app. Green on aus panel app for multiple panels including micorcephaly but not FA. PMID: 40924476 neonatal diabetes, microcephaly and epilepsy. AR. 6 individuals 4 consanguineous 1 compound het, rest hom. 1fs, 1 splice variant (LOF ) 4 missense. Microcephaly birth for 1 04.17 SD, 1 at 1 month -8.1, 2 month -10,1 others 4 year but suggests prenatal onset. 3 with MRI (no age given) 2x lissencephaly, 1x likely obstructive hydrocephalus. 1 bilateral cataracts, 1 polydactyly, 1 micrognathia, 2x talipes.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy and diabetes syndrome

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

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

History Filter Activity

20 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: TMEM167A.

20 Mar 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TMEM167A were set to

20 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TMEM167A were changed from Microcephaly, epilepsy and diabetes syndrome to Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Microcephaly, epilepsy and diabetes syndrome for gene: TMEM167A

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: TMEM167A was added gene: TMEM167A was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal