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| Paediatric or syndromic cardiomyopathy v8.7 | XPNPEP3 | Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated families reported in literature with biallelic XPNPEP3 variants and paediatric cardiomyopathy (1 from a pre-print article). Hence, this gene should remain Amber until more evidence emerges.; to: Comment on list classification: There are now 3 unrelated families reported in literature with biallelic XPNPEP3 variants and paediatric cardiomyopathy (1 from a pre-print article). Hence, this gene should remain Amber on Paediatric or syndromic cardiomyopathy until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.7 | XPNPEP3 | Ida Ertmanska Classified gene: XPNPEP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.7 | XPNPEP3 | Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated families reported in literature with biallelic XPNPEP3 variants and paediatric cardiomyopathy (1 from a pre-print article). Hence, this gene should remain Amber until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.7 | XPNPEP3 | Ida Ertmanska Gene: xpnpep3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v8.6 | XPNPEP3 |
Ida Ertmanska gene: XPNPEP3 was added gene: XPNPEP3 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356; 35328774; 39363162; doi:https://doi.org/10.1101/2025.01.11.25320052 Phenotypes for gene: XPNPEP3 were set to cardiomyopathy, MONDO:0004994 Review for gene: XPNPEP3 was set to AMBER Added comment: PMID: 20179356 O'Toole et al., 2010 2 affected individuals of kindred F543 (Turkish decent) had a homozygous 4-base deletion in XPNPEP3 c.931_934 delAACA, (p.N311LfsX5). Patient phenotype: Cardiomyopathy, seizure, mental/developmental delay, chronic pancreatitis with pancreatic cysts, mitochondrial disorder. Kindred A131 - 3 affected individuals (North Finnish) harboured a homozygous splice-site mutation (1357G>T) in XPNPEP3. Patient phenotype: mild form of an NPHP-like kidney disease, with residual kidney function beyond the age of 20 years; hypertension, essential tremor, hearing loss. PMID: 39363162 Zhen et al., 2024 13-year-old Chinese female patient with intellectual disability presented with a 2-year history of convulsions and fatigue, with a recent episode of swelling, breathlessness, and nocturnal dyspnea. The patient was diagnosed with cardiomyopathy, ventricular tachycardia, heart failure, and kidney failure. WES revealed a homozygous c.970–2A > G mutation in XPNPEP3. doi:https://doi.org/10.1101/2025.01.11.25320052 Ruijmbeek et al., 2025 - PRE-PRINT Report of two siblings with renal insufficiency and rapidly progressive cardiomyopathy revealed a novel homozygous variant (NM_022098.4 c.1357G>A) in the XPNPEP3 gene, showed to cause abnormal splicing, leading to an abnormal transcript and loss of XPNPEP3 protein function. PMID: 35328774 Wachoski-Dark et al., 2022 - review article XPNPEP3 is a mitochondrial protease that is responsible for the secondary cleavage of proteins localized to the matrix. XPNPEP3-related disease is caused by mitochondrial dysfunction rather than ciliary dysfunction (hypothesised previously). Sources: Literature |
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