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Fetal anomalies v0.4101 TBCD Zornitza Stark Marked gene: TBCD as ready
Fetal anomalies v0.4101 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Fetal anomalies v0.4101 TBCD Zornitza Stark Publications for gene: TBCD were set to
Fetal anomalies v0.4100 TBCD Zornitza Stark changed review comment from: CC abnormalities.; to: CC abnormalities, arthrogryposis are relevant to fetal panel.
Fetal anomalies v0.4100 TBCD Zornitza Stark commented on gene: TBCD: CC abnormalities.
Fetal anomalies v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646; Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193