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| Ciliopathies v1.37 | PDIA6 | Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.4 | PDIA6 | Zornitza Stark Marked gene: PDIA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.4 | PDIA6 | Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.4 | PDIA6 | Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.4 | PDIA6 | Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.3 | PDIA6 |
Zornitza Stark gene: PDIA6 was added gene: PDIA6 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to 33495992 Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Review for gene: PDIA6 was set to AMBER Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. Sources: Expert Review |
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