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| Hereditary neuropathy or pain disorder v7.20 | XPNPEP3 | Arina Puzriakova edited their review of gene: XPNPEP3: Changed rating: AMBER; Changed publications to: 38035175, 40953058; Changed phenotypes to: Nephronophthisis-like nephropathy 1, OMIM:613159, Peripheral neuropathy, MONDO:0005244, myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.18 | XPNPEP3 | Arina Puzriakova Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy, MONDO:0005244 to Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy, MONDO:0005244; myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.17 | XPNPEP3 | Arina Puzriakova Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy to Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy, MONDO:0005244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.16 | XPNPEP3 | Arina Puzriakova Phenotypes for gene: XPNPEP3 were changed from Nephronopthisis; brain white matter lesions; sensory axonal neuropathy; recurrent rhabdomyolysis; cardiomyopathy; ataxia; hearing loss to Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.15 | XPNPEP3 | Arina Puzriakova Publications for gene: XPNPEP3 were set to 40953058 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.14 | XPNPEP3 | Arina Puzriakova Classified gene: XPNPEP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.14 | XPNPEP3 |
Arina Puzriakova Added comment: Comment on list classification: Biallelic variants in this gene are associated with nephronophthisis, a progressive cystic kidney disorder that leads to end-stage renal disease (OMIM:613159). Extra-renal manifestations have only been reported in a subset of cases - neurological features have been reported in at least 4 unrelated families including tremor, dystonia, rhabdomyolysis, peripheral neuropathy, sensorineural hearing loss, epilepsy and cardiomyopathy. Kidney disease was present in all (PMID: 20179356; 38035175), except one case (PMID: 40953058). In the literature, there are 2 cases with peripheral neuropathy and biallelic variants in this gene (PMID: 38035175; 40953058), however, this is not a common manifestation for this gene. One case did not have any typical renal features and therefore it's worth monitoring for similar reports. In the meantime rating as Amber awaiting further corroborating cases. |
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| Hereditary neuropathy or pain disorder v7.14 | XPNPEP3 | Arina Puzriakova Gene: xpnpep3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.8 | XPNPEP3 |
Alexander Rossor gene: XPNPEP3 was added gene: XPNPEP3 was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 40953058 Phenotypes for gene: XPNPEP3 were set to Nephronopthisis; brain white matter lesions; sensory axonal neuropathy; recurrent rhabdomyolysis; cardiomyopathy; ataxia; hearing loss Penetrance for gene: XPNPEP3 were set to Complete Review for gene: XPNPEP3 was set to AMBER Added comment: Currently sensory axonal neuropathy only reported in a single case. Sources: Other |
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