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| Paediatric or syndromic cardiomyopathy v7.53 | NPHP3 | Achchuthan Shanmugasundram Classified gene: NPHP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.53 | NPHP3 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene is primarily associated with nephronophthisis in > 20 unrelated cases. There is only one patient reported with a NPHP3 synonymous variant from UK 100,000 genomes cohort and the phenotype was not explained by the variant. Hence, this gene does not have any evidence of reliable association with cardiomyopathy and should be rated red. |
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| Paediatric or syndromic cardiomyopathy v7.53 | NPHP3 | Achchuthan Shanmugasundram Gene: nphp3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.52 | NPHP3 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 01 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.52 | NPHP3 | Achchuthan Shanmugasundram Phenotypes for gene: NPHP3 were changed from Renal-hepatic-pancreatic dysplasia 1, OMIM:208540; Nephronophthisis 3, OMIM:604387; Meckel syndrome 7, OMIM:267010 to Renal-hepatic-pancreatic dysplasia 1, OMIM:208540; Nephronophthisis 3, OMIM:604387; Meckel syndrome 7, OMIM:267010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.51 | NPHP3 |
Achchuthan Shanmugasundram gene: NPHP3 was added gene: NPHP3 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP3 were set to 34212438; 39472908 Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, OMIM:208540; Nephronophthisis 3, OMIM:604387; Meckel syndrome 7, OMIM:267010 Review for gene: NPHP3 was set to RED Added comment: There are >20 unrelated patients reported with biallelic variants in NPHP3 and with nephronophthisis. occasionally, patients have presented with extra-renal features, including rare congenital heart defects in a small number of cases. There are three OMIM phenotypes associated with this gene, of which Renal-hepatic-pancreatic dysplasia 1 (MIM #208540) had recorded atrial septal defect, aortic stenosis, or situs abnormalities as potential cardiovascular presentations. The only patient that was reported with cardiomyopathy was from PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with homozygous synonymous variant in NPHP3 gene (c.2805C>T/ p.Gly935=) via reanalysis of data from duo genome sequencing. The publication states that the cardiomyopathy phenotype is not explained by the genotype. This variant was previously reported to be responsible for hepatorenal fibrocystic disease from PMID:34212438 in five unrelated families. The two patients from the UK 100,000 genomes cohort reported in this publication also had valvular cardiopathy. Sources: Literature |
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