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Mendeliome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Another 15 individuals from 7 families reported in PMID 16815872, two recurrent variants, likely founder effect.
Created: 28 Oct 2020, 9:35 p.m. | Last Modified: 28 Oct 2020, 9:35 p.m.
Panel Version: 0.5164

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 2 602078

Publications

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 11600883 - 3 families with three variants (none found in gnomAD) and congenital fibrosis. Paper also includes mouse model.

PMID: 18323871 - 2 families (4 patients) with congenital superior oblique muscle palsy. Patients had a 5' UTR region SNP, regarded as a risk factor, notes variant is also seen in normal individuals.

Meets criteria to be green but no SNV reports since 2001
Created: 22 Jun 2020, 12:51 a.m. | Last Modified: 22 Jun 2020, 12:51 a.m.
Panel Version: 0.3143

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 2 602078

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2 602078
OMIM
602753
Clinvar variants
Variants in PHOX2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHOX2A were set to 11600883; 18323871

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).

22 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phox2a has been classified as Amber List (Moderate Evidence).

22 Jun 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jun 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHOX2A were set to

22 Jun 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PHOX2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phox2a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHOX2A was added gene: PHOX2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHOX2A was set to Unknown