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| Hereditary Neuropathy v2.33 | PIGG | Sangavi Sivagnanasundram Classified gene: PIGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.33 | PIGG | Sangavi Sivagnanasundram Gene: pigg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.32 | PIGG |
Sangavi Sivagnanasundram gene: PIGG was added gene: PIGG was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGG were set to 41744056; 39444079 Phenotypes for gene: PIGG were set to PIGG-related hereditary neuropathy MONDO:0002316 Review for gene: PIGG was set to GREEN Added comment: PMID 39444079 reports 7 individuals from 6 families with neurological/neuromuscular phenotype including distal hereditary motor neuropathy, motor conduction block, childhood tremor, febrile seizures and mild cerebellar signs, all harbouring biallelic loss‑of‑function PIGG variants (including the recurrent p.Trp505* and missense Val339Gly, Gly19Glu). The affected individuals were reported to have a milder neuropathy phenotype as per their NCS results. PMID 41744056 reports a 27‑year‑old woman with adolescent‑onset motor neuropathy, myokymia and gait ataxia carrying a homozygous nonsense PIGG variant (p.Trp505* - this variant has a FAF of 0.1% in gnomADv4.1 however appears to be a recurrent variant reported in multiple individuals in the literature). Sources: Literature |
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