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Date	Panel	Item	Activity
Filter activities 8 actions
08 Jul 2020	Cataract v0.183	ESCO2	Zornitza Stark Marked gene: ESCO2 as ready
08 Jul 2020	Cataract v0.183	ESCO2	Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
08 Jul 2020	Cataract v0.183	ESCO2	Zornitza Stark Gene: esco2 has been classified as Amber List (Moderate Evidence).
08 Jul 2020	Cataract v0.183	ESCO2	Zornitza Stark Marked gene: ESCO2 as ready
08 Jul 2020	Cataract v0.183	ESCO2	Zornitza Stark Gene: esco2 has been classified as Amber List (Moderate Evidence).
08 Jul 2020	Cataract v0.183	ESCO2	Zornitza Stark Classified gene: ESCO2 as Amber List (moderate evidence)
08 Jul 2020	Cataract v0.183	ESCO2	Zornitza Stark Gene: esco2 has been classified as Amber List (Moderate Evidence).
08 Jul 2020	Cataract v0.180	ESCO2	Seb Lunke gene: ESCO2 was added gene: ESCO2 was added to Cataract. Sources: Literature Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 19574259 Phenotypes for gene: ESCO2 were set to Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300 Review for gene: ESCO2 was set to AMBER Added comment: Corneal opacities described in 13/36 cases with Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2. Sources: Literature