Familial dysautonomia
Gene: PHOX2BRemoved 'currently-ngs-unreportable' tag because PHOX2B is rated green on this panel. PHOX2B also rated green on the 'Familial Hirschsprung' and 'Sudden death in the young' panels based on Central hypoventilation syndrome (MIM:209880) phenotype. Although nucleotide repeat expansions in PHOX2B are the most common cause of MIM:209880, other indels are relevant, hence green rating.Created: 25 Jul 2017, 8:23 a.m.
Comment on list classification: Mostly caused by expansions so not detectable at presentCreated: 1 Dec 2016, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
Publications
Tag currently-ngs-unreportable was removed from gene: PHOX2B.
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PHOX2B was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
PHOX2B was created by agardham