Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fetal anomalies v0.469 | IGHMBP2 | Zornitza Stark Marked gene: IGHMBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.469 | IGHMBP2 | Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.469 | IGHMBP2 | Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI MIM#604320 to Neuronopathy, distal hereditary motor, type VI MIM#604320; SMA with respiratory distress, SMARD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.468 | IGHMBP2 | Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to Neuronopathy, distal hereditary motor, type VI MIM#604320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.467 | IGHMBP2 | Zornitza Stark Publications for gene: IGHMBP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.448 | IGHMBP2 | Ain Roesley reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14681881, 23560007, 30863264; Phenotypes: Neuronopathy, distal hereditary motor, type VI MIM#604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | IGHMBP2 |
Zornitza Stark gene: IGHMBP2 was added gene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 |