Activity
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8 actions
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| Neonatal diabetes v5.19 | TMEM167A | Arina Puzriakova Tag gene-checked tag was added to gene: TMEM167A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.19 | TMEM167A | Ida Ertmanska Tag Q3_25_promote_green was removed from gene: TMEM167A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.19 | TMEM167A | Ida Ertmanska reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.18 | TMEM167A |
Ida Ertmanska 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) |
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| Neonatal diabetes v5.6 | TMEM167A | Arina Puzriakova Classified gene: TMEM167A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.6 | TMEM167A | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.6 | TMEM167A | Arina Puzriakova Gene: tmem167a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.5 | TMEM167A |
Arina Puzriakova 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 Added comment: 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 |
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