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Fetal anomalies v0.3960 | TUSC3 | Zornitza Stark Marked gene: TUSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3960 | TUSC3 | Zornitza Stark Gene: tusc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3960 | TUSC3 | Zornitza Stark Phenotypes for gene: TUSC3 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3959 | TUSC3 | Zornitza Stark Publications for gene: TUSC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3958 | TUSC3 | Zornitza Stark changed review comment from: More than 5 unrelated families reported, note homozygous deletions in at least two.; to: More than 5 unrelated families reported, note homozygous deletions in at least two. Clinical presentation is typically post-natal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3958 | TUSC3 | Zornitza Stark edited their review of gene: TUSC3: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | TUSC3 |
Zornitza Stark gene: TUSC3 was added gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 |