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| Mendeliome v1.4324 | HMGB3 | Bryony Thompson Marked gene: HMGB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4324 | HMGB3 | Bryony Thompson Gene: hmgb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4324 | HMGB3 |
Bryony Thompson gene: HMGB3 was added gene: HMGB3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HMGB3 were set to 24993872 Phenotypes for gene: HMGB3 were set to X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0010485 Review for gene: HMGB3 was set to RED Added comment: A single family reported in 2014, segregating a hemizygous frameshift variant in affected men Sources: Literature |
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