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Date	Panel	Item	Activity
Filter activities 5 actions
30 Mar 2023	Genomic newborn screening: BabyScreen+ v0.2144	ABHD12	Zornitza Stark Marked gene: ABHD12 as ready
30 Mar 2023	Genomic newborn screening: BabyScreen+ v0.2144	ABHD12	Zornitza Stark Gene: abhd12 has been classified as Red List (Low Evidence).
30 Mar 2023	Genomic newborn screening: BabyScreen+ v0.2144	ABHD12	Zornitza Stark Classified gene: ABHD12 as Red List (low evidence)
30 Mar 2023	Genomic newborn screening: BabyScreen+ v0.2144	ABHD12	Zornitza Stark Gene: abhd12 has been classified as Red List (Low Evidence).
30 Mar 2023	Genomic newborn screening: BabyScreen+ v0.2141	ABHD12	Lilian Downie gene: ABHD12 was added gene: ABHD12 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Review for gene: ABHD12 was set to RED Added comment: Age of onset not consistently under 5 for treatable elements such as hearing loss. Sources: Expert list