PHOX2B

paired like homeobox 2b
OMIM: 603851, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 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 1.1902	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
Red PHOX2B in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Neuroblastoma 2
Red PHOX2B in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Neuroblastoma 2
Red PHOX2B in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Neuroblastoma 2
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 0.50	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 1.255	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 1.114	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 CCHS STR in Repeat Disorders Version 0.167	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