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| Cerebral Palsy v1.348 | ERLIN2 |
Clare van Eyk gene: ERLIN2 was added gene: ERLIN2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to PMID: 38553553 Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18A, autosomal dominant, MIM#620512; Spastic paraplegia 18B, autosomal recessive, MIM#611225 Review for gene: ERLIN2 was set to RED Added comment: Single individual with homozygous frameshift insertion in ERLIN2 described in WGS study of clinically confirmed CP (PMID: 38553553). Both monoallelic and biallelic variants have been reported to cause hereditary spastic paraplegia. Sources: Literature |
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