Activity
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| Renal ciliopathies v4.19 | PDIA6 | Ida Ertmanska Publications for gene: PDIA6 were set to 33495992; 34487921; 35856135; 40974269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.18 | PDIA6 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: PDIA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.18 | PDIA6 | Ida Ertmanska changed review comment from: Comment on list classification: There are two plausible reports of unrelated individuals with biallelic PDIA6 variants and polycystic kidney disease. The disease mechanism is yet to be established, and the ciliopathy association is putative. Hence, this gene can only be rated Amber on Renal ciliopathies for now.; to: Comment on list classification: There are two plausible reports of unrelated individuals with biallelic PDIA6 variants and polycystic kidney disease. Functional evidence from mouse models shows that pdia6 downregulation leads to cilia removal, resulting in glomerulosclerosis in the mice. Hence, this gene can be promoted to Green on Renal ciliopathies at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.18 | PDIA6 | Ida Ertmanska edited their review of gene: PDIA6: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.18 | PDIA6 | Ida Ertmanska edited their review of gene: PDIA6: Changed publications to: 34487921, 35856135, 39044457, 40974269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.18 | PDIA6 |
Ida Ertmanska changed review comment from: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_005742:p.Tyr316* variant in a male proband with polycystic kidney disease, infancy-onset diabetes, microcephaly, developmental delay, bilateral sensorineural hearing loss, hypotonia, visual impairment, and steatorrhea. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Functional evidence: PMID: 34487921 Chhabra et al., 2023 Mouse model carrying a missense mutation (Phe175Ser) in PDIA6. Homozygous mice were mildly hyperglycemic at weaning and subsequently became hypoinsulinemic and overtly diabetic at the adult stage, due to loss of pancreatic β-cell function and identity. Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated.; to: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_005742:p.Tyr316* variant in a male proband with polycystic kidney disease, infancy-onset diabetes, microcephaly, developmental delay, bilateral sensorineural hearing loss, hypotonia, visual impairment, and steatorrhea. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Functional evidence: PMID: 34487921 Chhabra et al., 2023 Mouse model carrying a missense mutation (Phe175Ser) in PDIA6. Homozygous mice were mildly hyperglycemic at weaning and subsequently became hypoinsulinemic and overtly diabetic at the adult stage, due to loss of pancreatic β-cell function and identity. PMID: 39044457 Kim et al., 2024 Study involved Pdia6 knockout mice with in a 58 bp deletion in exon 3, and a frameshift mutation in exon 4 Downregulating PDIA6 leads to cilia removal, makes cells more sensitive to ferroptotic death caused by endoplasmic reticulum (ER) stress. The reduction of PDIA6 intensifies the ER stress response, while also impairing the regulation of primary cilia in various cell types. Pdia6+/− mice displayed glomerular abnormalities that are suggestive of glomerulosclerosis. Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated. |
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| Renal ciliopathies v4.18 | PDIA6 |
Ida Ertmanska changed review comment from: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_005742:p.Tyr316* variant in a male proband with polycystic kidney disease, infancy-onset diabetes, microcephaly, developmental delay, bilateral sensorineural hearing loss, hypotonia, visual impairment, and steatorrhea. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Functional evidence: PMID: 34487921 Chhabra et al., 2023 Mouse model carrying a missense mutation (Phe175Ser) in PDIA6. Homozygous mice were mildly hyperglycemic at weaning and subsequently became hypoinsulinemic and overtly diabetic at the adult stage, due to loss of pancreatic β-cell function and identity. Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated.; to: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_005742:p.Tyr316* variant in a male proband with polycystic kidney disease, infancy-onset diabetes, microcephaly, developmental delay, bilateral sensorineural hearing loss, hypotonia, visual impairment, and steatorrhea. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Functional evidence: PMID: 34487921 Chhabra et al., 2023 Mouse model carrying a missense mutation (Phe175Ser) in PDIA6. Homozygous mice were mildly hyperglycemic at weaning and subsequently became hypoinsulinemic and overtly diabetic at the adult stage, due to loss of pancreatic β-cell function and identity. Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated. |
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| Renal ciliopathies v4.18 | PDIA6 |
Ida Ertmanska changed review comment from: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_001282704: p.Val235fs variant in a male proband with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Functional evidence: PMID: 34487921 Chhabra et al., 2023 Mouse model carrying a missense mutation (Phe175Ser) in PDIA6. Homozygous mice were mildly hyperglycemic at weaning and subsequently became hypoinsulinemic and overtly diabetic at the adult stage, due to loss of pancreatic β-cell function and identity. Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated.; to: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_005742:p.Tyr316* variant in a male proband with polycystic kidney disease, infancy-onset diabetes, microcephaly, developmental delay, bilateral sensorineural hearing loss, hypotonia, visual impairment, and steatorrhea. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Functional evidence: PMID: 34487921 Chhabra et al., 2023 Mouse model carrying a missense mutation (Phe175Ser) in PDIA6. Homozygous mice were mildly hyperglycemic at weaning and subsequently became hypoinsulinemic and overtly diabetic at the adult stage, due to loss of pancreatic β-cell function and identity. Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated. |
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| Renal ciliopathies v4.18 | PDIA6 | Ida Ertmanska edited their review of gene: PDIA6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.18 | PDIA6 | Ida Ertmanska Publications for gene: PDIA6 were set to 33495992; 35856135; 40974269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.17 | PDIA6 | Ida Ertmanska edited their review of gene: PDIA6: Changed publications to: 34487921, 35856135, 40974269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.17 | PDIA6 |
Ida Ertmanska changed review comment from: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_001282704: p.Val235fs variant in a male proband with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated.; to: PMID: 35856135 De Franco et al., 2022 Report of a biallelic loss-of-function PDIA6 NM_001282704: p.Val235fs variant in a male proband with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Consanguineous, Middle Eastern parents with history of pregnancy loss. PMID: 40974269 Al-Hadidi et al., 2026 Report of a full-term male neonate born to consanguineous Syrian parents, who presented with polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Homozygous for PDIA6 NM_005742.4 :c.1958delC, p.Pro653fs* variant - cannot find it anywhere, the NM_005742.4 transcript only has 440 amino acids..? Functional evidence: PMID: 34487921 Chhabra et al., 2023 Mouse model carrying a missense mutation (Phe175Ser) in PDIA6. Homozygous mice were mildly hyperglycemic at weaning and subsequently became hypoinsulinemic and overtly diabetic at the adult stage, due to loss of pancreatic β-cell function and identity. Additional info: https://www.congresslife.com/e-poster/ESPN2023/def/[email protected]/poster.pdf - Abdullah et al This conference poster reports 3 cases with PDIA6 variants and polycystic kidney disease with neonatal diabetes. Case 3 homozygous for PDIA6 c.702delT, p.Arg235Glufs*87, other genotypes not stated. |
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| Renal ciliopathies v4.17 | PDIA6 | Ida Ertmanska changed review comment from: Comment on list classification: There are two plausible reports of unrelated individuals with biallelic PDIA6 variants and polycystic kidney disease. The disease mechanism is yet to be established, and the ciliopathy association is putative. Hence, this gene can only be rated Amber on Renal ciliopathies for now.; to: Comment on list classification: There are two plausible reports of unrelated individuals with biallelic PDIA6 variants and polycystic kidney disease. The disease mechanism is yet to be established, and the ciliopathy association is putative. Hence, this gene can only be rated Amber on Renal ciliopathies for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.17 | PDIA6 | Ida Ertmanska Classified gene: PDIA6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.17 | PDIA6 | Ida Ertmanska Added comment: Comment on list classification: There are two plausible reports of unrelated individuals with biallelic PDIA6 variants and polycystic kidney disease. The disease mechanism is yet to be established, and the ciliopathy association is putative. Hence, this gene can only be rated Amber on Renal ciliopathies for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.17 | PDIA6 | Ida Ertmanska Gene: pdia6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.16 | PDIA6 | Ida Ertmanska Tag Q2_26_promote_green was removed from gene: PDIA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.16 | PDIA6 | Ida Ertmanska Publications for gene: PDIA6 were set to 33495992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.15 | PDIA6 | Ida Ertmanska Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Polycystic kidney dysplasia, HP:0000113; Diabetes mellitus, HP:0000819; Microcephaly, HP:0000252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.14 | PDIA6 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: PDIA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v4.14 | PDIA6 | Ida Ertmanska reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35856135, 40974269; Phenotypes: Polycystic kidney dysplasia, HP:0000113, Diabetes mellitus, HP:0000819, Microcephaly, HP:0000252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.46 | PDIA6 | Eleanor Williams commented on gene: PDIA6: Added this gene to this panel on advice from Genomics England clinical team. Rating amber as 1 case plus functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.46 | PDIA6 | Eleanor Williams Entity copied from Skeletal ciliopathies v1.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.46 | PDIA6 |
Eleanor Williams gene: PDIA6 was added gene: PDIA6 was added to Renal ciliopathies. Sources: Literature,Expert Review Amber 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 |
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