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Severe Paediatric Disorders v1.79 | ACD | Arina Puzriakova Phenotypes for gene: ACD were changed from ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ACD | Louise Daugherty reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ACD | Louise Daugherty Publications for gene ACD were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ACD | Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ACD | Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ACD | Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ACD | Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ACD |
Louise Daugherty Mode of inheritance for gene ACD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD |
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Severe Paediatric Disorders v0.7 | ACD | Louise Daugherty Source Next Generation Children Project was added to ACD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ACD |
Louise Daugherty Source Expert Review Amber was added to ACD. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Severe Paediatric Disorders v0.4 | ACD |
Louise Daugherty gene: ACD was added gene: ACD was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACD was set to |