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Date	Panel	Item	Activity
Filter activities 5 actions
28 Feb 2022	Fetal anomalies v0.4311	COPB1	Zornitza Stark Marked gene: COPB1 as ready
28 Feb 2022	Fetal anomalies v0.4311	COPB1	Zornitza Stark Gene: copb1 has been classified as Red List (Low Evidence).
28 Feb 2022	Fetal anomalies v0.4311	COPB1	Zornitza Stark Classified gene: COPB1 as Red List (low evidence)
28 Feb 2022	Fetal anomalies v0.4311	COPB1	Zornitza Stark Gene: copb1 has been classified as Red List (Low Evidence).
28 Feb 2022	Fetal anomalies v0.4266	COPB1	Ain Roesley gene: COPB1 was added gene: COPB1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COPB1 were set to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts Review for gene: COPB1 was set to RED gene: COPB1 was marked as current diagnostic Added comment: Two unrelated families, some supportive functional data. Microcephaly is not a consistent feature in the families reported to date. Cataracts were also post-natal Sources: Literature