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| Hereditary Neuropathy v2.9 | PIGB |
Sangavi Sivagnanasundram gene: PIGB was added gene: PIGB was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to Developmental and epileptic encephalopathy 80 MONDO:0032822 Review for gene: PIGB was set to GREEN Added comment: PMID 31256876 reports 5 individuals from three families with biallelic PIGB variants (missense, nonsense and splice‑site variants) presenting with global developmental delay, infantile‑onset seizures, dysmorphic features and an axonal and demyelinating peripheral neuropathy. Sources: Literature |
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