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Date	Panel	Item	Activity
Filter activities 9 actions
02 Mar 2023	Congenital Heart Defect v0.272	SMPD4	Elena Savva Classified gene: SMPD4 as Green List (high evidence)
02 Mar 2023	Congenital Heart Defect v0.272	SMPD4	Elena Savva Gene: smpd4 has been classified as Green List (High Evidence).
02 Mar 2023	Congenital Heart Defect v0.272	SMPD4	Elena Savva Classified gene: SMPD4 as Green List (high evidence)
02 Mar 2023	Congenital Heart Defect v0.272	SMPD4	Elena Savva Gene: smpd4 has been classified as Green List (High Evidence).
02 Mar 2023	Congenital Heart Defect v0.271	SMPD4	Elena Savva Classified gene: SMPD4 as Green List (high evidence)
02 Mar 2023	Congenital Heart Defect v0.271	SMPD4	Elena Savva Gene: smpd4 has been classified as Green List (High Evidence).
02 Mar 2023	Congenital Heart Defect v0.270	SMPD4	Elena Savva Marked gene: SMPD4 as ready
02 Mar 2023	Congenital Heart Defect v0.270	SMPD4	Elena Savva Gene: smpd4 has been classified as Red List (Low Evidence).
02 Mar 2023	Congenital Heart Defect v0.270	SMPD4	Elena Savva gene: SMPD4 was added gene: SMPD4 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to PMID: 36732302 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622 Review for gene: SMPD4 was set to GREEN Added comment: PMID: 36732302 - 44% of patients have a type of congenital heart defect including ASD (16%), persistent ductus arteriosus (20%), long QT (4%), DCM (4%), VSD (8%) and transposition of the great arteries (4%) Sources: Literature