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| Arthrogryposis v3.38 | TBCD | Arina Puzriakova Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.37 | TBCD | Arina Puzriakova Publications for gene: TBCD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.36 | TBCD | Arina Puzriakova Classified gene: TBCD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.36 | TBCD | Arina Puzriakova Added comment: Comment on list classification: Maintaining the Red rating on this panel as curation of published literature revealed only a single report of an individual with multiple arthrogryposis (individual II-2 from PMID:27666374). This disorder is better represented by other panels for which this gene is already Green (Genetic epilepsy syndromes, Intellectual disability, etc). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.36 | TBCD | Arina Puzriakova Gene: tbcd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.35 | TBCD | Arina Puzriakova Mode of inheritance for gene: TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | TBCD | Zornitza Stark reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666370, 27666374; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM# 617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.64 | TBCD | Rebecca Foulger reviewed gene: TBCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.62 | TBCD |
Rebecca Foulger gene: TBCD was added gene: TBCD was added to Arthrogryposis. Sources: Expert Review Red Mode of inheritance for gene: TBCD was set to |
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