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Severe Paediatric Disorders v0.17 FA2H Louise Daugherty Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 FA2H Louise Daugherty Publications for gene FA2H were updated from to 30847515
Severe Paediatric Disorders v0.10 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.9 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.9 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.8 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.7 FA2H Louise Daugherty Source Next Generation Children Project was added to FA2H.
Severe Paediatric Disorders v0.5 FA2H Louise Daugherty Source Expert Review Green was added to FA2H.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 FA2H Louise Daugherty gene: FA2H was added
gene: FA2H was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FA2H was set to