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| Hereditary spastic paraplegia, childhood onset v9.13 | POLR3K | Achchuthan Shanmugasundram Phenotypes for gene: POLR3K were changed from Leukodystrophy, hypomyelinating, 21, OMIM:619310 to Leukodystrophy, hypomyelinating, 21, OMIM:619310; leukodystrophy, hypomyelinating, 21, MONDO:0030263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.12 | POLR3K | Achchuthan Shanmugasundram Publications for gene: POLR3K were set to 30584594; 33659930 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v9.11 | POLR3K | Achchuthan Shanmugasundram reviewed gene: POLR3K: Rating: AMBER; Mode of pathogenicity: None; Publications: 30584594, 40225923; Phenotypes: Leukodystrophy, hypomyelinating, 21, OMIM:619310, leukodystrophy, hypomyelinating, 21, MONDO:0030263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v2.36 | POLR3K | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.98 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v2.36 | POLR3K |
Ivone Leong gene: POLR3K was added gene: POLR3K was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber watchlist, founder-effect tags were added to gene: POLR3K. Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Leukodystrophy, hypomyelinating, 21, OMIM:619310 |
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