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Central Hypoventilation v1.7 PHOX2B_CCHS_GCN Zornitza Stark Marked STR: PHOX2B_CCHS_GCN as ready
Central Hypoventilation v1.7 PHOX2B_CCHS_GCN Zornitza Stark Str: phox2b_cchs_gcn has been classified as Green List (High Evidence).
Central Hypoventilation v1.7 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Central Hypoventilation v1.7 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Central Hypoventilation. 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