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| Mendeliome v1.727 | REPS1 | Zornitza Stark Marked gene: REPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.727 | REPS1 | Zornitza Stark Gene: reps1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.727 | REPS1 |
Zornitza Stark gene: REPS1 was added gene: REPS1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: REPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REPS1 were set to 29395073 Phenotypes for gene: REPS1 were set to Neurodegeneration with brain iron accumulation 7 , MIM# 617916 Review for gene: REPS1 was set to RED Added comment: Two siblings reported with compound het missense variants in this gene and a neurodegenerative course in childhood. Sources: Literature |
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