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  2. Congenital ophthalmoplegia
  3. PHOX2A
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Congenital ophthalmoplegia

Gene: PHOX2A

Green List (high evidence)
PHOX2A (paired like homeobox 2a)
EnsemblGeneIds (GRCh38): ENSG00000165462
EnsemblGeneIds (GRCh37): ENSG00000165462
OMIM: 602753, Gene2Phenotype
PHOX2A is in 4 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

Total 4 mutations reported in 5 families
PMID 11600883 - 3 mutations in 4 families
Created: 28 Oct 2020, 12:47 p.m. | Last Modified: 28 Oct 2020, 12:47 p.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 2, 602078

Publications

Created: 28 Oct 2020, 12:47 p.m.
Last Modified: 28 Oct 2020, 12:47 p.m.
Panel version: 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2, MIM# 602078
OMIM
602753
Clinvar variants
Variants in PHOX2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phox2a has been classified as Green List (High Evidence).

28 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, MIM# 602078

28 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHOX2A were set to 14597037; 22311481; 11600883

7 Oct 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHOX2A was added gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PHOX2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHOX2A were set to 14597037; 22311481; 11600883 Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2