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Severe Paediatric Disorders v0.17 ABCA12 Louise Daugherty Mode of inheritance for gene ABCA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCA1 Louise Daugherty Mode of inheritance for gene ABCA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 ABCA12 Louise Daugherty reviewed gene: ABCA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA1 Louise Daugherty reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ABCA12 Louise Daugherty Publications for gene ABCA12 were updated from to 30847515
Severe Paediatric Disorders v0.11 ABCA1 Louise Daugherty Publications for gene ABCA1 were updated from to 30847515
Severe Paediatric Disorders v0.10 ABCA12 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
Severe Paediatric Disorders v0.10 ABCA1 Louise Daugherty Added phenotypes HDL deficiency, familial, 1, 604091; Tangier disease, 205400 for gene: ABCA1
Severe Paediatric Disorders v0.9 ABCA12 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
Severe Paediatric Disorders v0.9 ABCA1 Louise Daugherty Added phenotypes HDL deficiency, familial, 1, 604091; Tangier disease, 205400 for gene: ABCA1
Severe Paediatric Disorders v0.9 ABCA12 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
Severe Paediatric Disorders v0.9 ABCA1 Louise Daugherty Added phenotypes HDL deficiency, familial, 1, 604091; Tangier disease, 205400 for gene: ABCA1
Severe Paediatric Disorders v0.8 ABCA12 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
Severe Paediatric Disorders v0.8 ABCA1 Louise Daugherty Added phenotypes HDL deficiency, familial, 1, 604091; Tangier disease, 205400 for gene: ABCA1
Severe Paediatric Disorders v0.7 ABCA12 Louise Daugherty Source Next Generation Children Project was added to ABCA12.
Severe Paediatric Disorders v0.7 ABCA1 Louise Daugherty Source Next Generation Children Project was added to ABCA1.
Severe Paediatric Disorders v0.5 ABCA12 Louise Daugherty Source Expert Review Green was added to ABCA12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ABCA1 Louise Daugherty Source Expert Review Green was added to ABCA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ABCA12 Louise Daugherty gene: ABCA12 was added
gene: ABCA12 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ABCA12 was set to
Severe Paediatric Disorders v0.4 ABCA1 Louise Daugherty gene: ABCA1 was added
gene: ABCA1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ABCA1 was set to