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Date	Panel	Item	Activity
Filter activities 5 actions
17 Jun 2020	Ataxia - paediatric v0.215	FA2H	Bryony Thompson Marked gene: FA2H as ready
17 Jun 2020	Ataxia - paediatric v0.215	FA2H	Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
17 Jun 2020	Ataxia - paediatric v0.215	FA2H	Bryony Thompson Classified gene: FA2H as Green List (high evidence)
17 Jun 2020	Ataxia - paediatric v0.215	FA2H	Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
17 Jun 2020	Ataxia - paediatric v0.214	FA2H	Bryony Thompson gene: FA2H was added gene: FA2H was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 31135052 Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319 Review for gene: FA2H was set to GREEN Added comment: Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset. Sources: Expert list