Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Neurodegeneration with brain iron accumulation v0.35 FA2H Sangavi Sivagnanasundram reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 20853438, 19068277; Phenotypes: hereditary spastic paraplegia 35 MONDO:0012866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Fatty acid hydroxylase-associated neurodegeneration (FAHN)