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| Optic neuropathy v4.22 | INTS8 | Arina Puzriakova Phenotypes for gene: INTS8 were changed from Optic atrophy to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.28 | INTS8 |
Ivone Leong gene: INTS8 was added gene: INTS8 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS8 were set to 28542170 Phenotypes for gene: INTS8 were set to Optic atrophy Review for gene: INTS8 was set to RED Added comment: PMID: 28542170 describes one Dutch family with 3 affected siblings. All three are compound heterozygous for variants in this gene. Optic atrophy was listed as a phenotype for 2/3 siblings. Sources: Literature |
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