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Childhood onset dystonia, chorea or related movement disorder v2.10 | COL6A3 | Eleanor Williams commented on gene: COL6A3: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v2.8 | COL6A3 | Eleanor Williams Mode of inheritance for gene COL6A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | COL6A3 | Eleanor Williams Tag for-review was removed from gene: COL6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | COL6A3 | Sarah Leigh commented on gene: COL6A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.236 | COL6A3 |
Eleanor Williams Source Expert Review Amber was added to COL6A3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.162 | COL6A3 | Arina Puzriakova Publications for gene: COL6A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.161 | COL6A3 | Arina Puzriakova Phenotypes for gene: COL6A3 were changed from Dystonia 27, 616411 to Dystonia 27, OMIM:616411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | COL6A3 | Eleanor Williams Tag for-review tag was added to gene: COL6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.45 | COL6A3 | Eleanor Williams reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | COL6A3 | Zornitza Stark reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26004199, 32037012, 26872670; Phenotypes: Dystonia 27, MIM#616411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.255 | COL6A3 | Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from recommendation from Specialist Test Group (via Robyn Labrum LNGLH) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.255 | COL6A3 | Louise Daugherty Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.204 | COL6A3 | Louise Daugherty Phenotypes for gene: COL6A3 were changed from Dystonia 27 to Dystonia 27, 616411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.43 | COL6A3 | Ellen McDonagh Mode of inheritance for gene: COL6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.42 | COL6A3 | Ellen McDonagh Phenotypes for gene: COL6A3 were changed from to Dystonia 27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | COL6A3 |
Ellen McDonagh gene: COL6A3 was added gene: COL6A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: COL6A3 was set to |