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Regression v0.4 | TBCD | Zornitza Stark Marked gene: TBCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.4 | TBCD | Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.4 | TBCD | Zornitza Stark Classified gene: TBCD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.4 | TBCD | Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.3 | TBCD |
Zornitza Stark gene: TBCD was added gene: TBCD was added to Regression_VCGS. Sources: Expert Review Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCD were set to 27666370; 27666374 Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Review for gene: TBCD was set to GREEN Added comment: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. Sources: Expert Review |