Genes in panel
STRs in panel
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COVID-19 research

Gene: PAX1

Green List (high evidence)

PAX1 (paired box 1)
EnsemblGeneIds (GRCh38): ENSG00000125813
EnsemblGeneIds (GRCh37): ENSG00000125813
OMIM: 167411, Gene2Phenotype
PAX1 is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

High level of evidence
Created: 1 May 2020, 11:27 a.m. | Last Modified: 1 May 2020, 11:27 a.m.
Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe combined immunodeficiency; thymic aplasia; otofaciocervical syndrome

Rebecca Foulger (Genomics England curator)

Added PAX1 to Viral susceptibility panel as Green to match recent addition of PAX1 to Primary immunodeficiency panel (Version 2.137).
Sources: Other, Literature
Created: 29 Apr 2020, 8:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Otofaciocervical syndrome 2, 615560; Syndromic SCID

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Otofaciocervical syndrome 2, 615560
  • Syndromic SCID
OMIM
167411
Clinvar variants
Variants in PAX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pax1 has been classified as Green List (High Evidence).

29 Apr 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PAX1 was added gene: PAX1 was added to Viral susceptibility. Sources: Other,Literature Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 28657137; 32111619 Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, 615560; Syndromic SCID