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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