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| Fetal anomalies v1.502 | Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.502 | PHOX2B_CCHS_GCN |
Bryony Thompson STR: PHOX2B_CCHS_GCN was added STR: PHOX2B_CCHS_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN. Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833 Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 |
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| Fetal anomalies v0.3810 | PHOX2B | Zornitza Stark Marked gene: PHOX2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3810 | PHOX2B | Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3810 | PHOX2B | Zornitza Stark Phenotypes for gene: PHOX2B were changed from CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE; NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3809 | PHOX2B | Zornitza Stark Publications for gene: PHOX2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3808 | PHOX2B | Zornitza Stark Mode of inheritance for gene: PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3726 | PHOX2B | Chirag Patel reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 14608649, 15657873, 15121777, 26063465; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PHOX2B |
Zornitza Stark gene: PHOX2B was added gene: PHOX2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE; NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE |
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