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| Skeletal dysplasia v8.43 | 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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| Skeletal dysplasia v8.43 | PDIA6 | Ida Ertmanska changed review comment from: Comment on list classification: There are two reports of unrelated individuals with biallelic PDIA6 variants and thoracic dystrophy. However, PMID: 40974269 states the proband harboured a PDIA6 variant p.Pro653fs*, while the gene transcript is 440 amino acids. Hence, this gene can only be rated Amber on Skeletal dysplasia for now.; to: Comment on list classification: There are two reports of unrelated individuals with biallelic PDIA6 variants and thoracic dystrophy. PMID: 40974269 states the proband harboured a PDIA6 variant p.Pro653fs*, while the gene transcript is 440 amino acids. Hence, this gene can only be rated Amber on Skeletal dysplasia for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.43 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.42 | PDIA6 | Ida Ertmanska Publications for gene: PDIA6 were set to 33495992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.41 | PDIA6 | Ida Ertmanska Classified gene: PDIA6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.41 | PDIA6 | Ida Ertmanska Added comment: Comment on list classification: There are two reports of unrelated individuals with biallelic PDIA6 variants and thoracic dystrophy. However, PMID: 40974269 states the proband harboured a PDIA6 variant p.Pro653fs*, while the gene transcript is 440 amino acids. Hence, this gene can only be rated Amber on Skeletal dysplasia for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.41 | PDIA6 | Ida Ertmanska Gene: pdia6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.40 | PDIA6 | Ida Ertmanska reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: 34487921, 35856135, 40974269; Phenotypes: Polycystic kidney dysplasia, HP:0000113, Diabetes mellitus, HP:0000819, Microcephaly, HP:0000252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.168 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.168 | PDIA6 | Eleanor Williams Entity copied from Skeletal ciliopathies v1.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.168 | PDIA6 |
Eleanor Williams gene: PDIA6 was added gene: PDIA6 was added to Skeletal dysplasia. 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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