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Severe Paediatric Disorders v0.12 | PARN | Louise Daugherty reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PARN | Louise Daugherty Publications for gene PARN were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PARN | Louise Daugherty Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PARN | Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PARN | Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PARN | Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PARN | Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PARN | Louise Daugherty Source Next Generation Children Project was added to PARN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PARN |
Louise Daugherty Source Expert Review Green was added to PARN. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PARN |
Louise Daugherty gene: PARN was added gene: PARN was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PARN was set to |