Familial dysautonomia

Gene: PHOX2B

Green List (high evidence)

PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 11 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Removed '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.

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Mostly caused by expansions so not detectable at present
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
603851
Clinvar variants
Variants in PHOX2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

1 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

1 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

1 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

PHOX2B was created by agardham

1 Dec 2016, Gel status: 4

Added New Source

Alice Gardham (Genomics England)

PHOX2B was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen