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  2. Congenital fibrosis of the extraocular muscles
  3. PHOX2A
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Congenital fibrosis of the extraocular muscles

Gene: PHOX2A

Green List (high evidence)
PHOX2A (paired like homeobox 2a)
EnsemblGeneIds (GRCh38): ENSG00000165462
EnsemblGeneIds (GRCh37): ENSG00000165462
OMIM: 602753, Gene2Phenotype
PHOX2A is in 1 panel

2 reviews

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Four mutations currently identified in PHOX2A, in 5 familles.
Created: 21 Mar 2019, 10:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 2 602078

Publications

Created: 21 Mar 2019, 10:12 a.m.

Panel version: 0.8

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Gene also known as ARIX.
Sources: Literature
Created: 16 Feb 2019, 1:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fibrosis of extraocular muscles, congenital, 2

Publications

Created: 16 Feb 2019, 1:48 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2, OMIM:602078
OMIM
602753
Clinvar variants
Variants in PHOX2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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, OMIM:602078

21 Mar 2019, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PHOX2A. Source Expert Review Green was added to PHOX2A. Mode of inheritance for gene PHOX2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fibrosis of extraocular muscles, congenital, 2 602078 for gene: PHOX2A Publications for gene PHOX2A were changed from 11600883 to 11600883; 14597037; 22311481 Rating Changed from Red List (low evidence) to Green List (high evidence)

16 Feb 2019, Gel status: 1

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: PHOX2A was added gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHOX2A were set to 11600883 Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 Review for gene: PHOX2A was set to AMBER