PHOX2B

paired like homeobox 2b
OMIM: 603851, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PHOX2B in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 1.5	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880
Green PHOX2B in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.25	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PHOX2B in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880
Green PHOX2B in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880 Neuroblastoma with Hirschsprung disease - MIM#613013
Green PHOX2B in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber PHOX2B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Central hypoventilation syndrome
Green PHOX2B in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.51	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL CCHS
Green PHOX2B in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880
Red PHOX2B in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category B gene Phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880
Green PHOX2B in Neuroblastoma Level 2: Cancer Predisposition Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Neuroblastoma, MONDO:0005072 Neuroblastoma susceptibility to 2, MONDO:0700041 Neuroblastoma, susceptibility to, 2, MIM#613013 Neuroblastoma with Hirschsprung disease, MIM #613013
Green CCHS STR in Repeat Disorders Version 0.168	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset