Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: PAX1

Amber List (moderate evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:19 p.m. | Last Modified: 20 Oct 2020, 3:19 p.m.
Panel Version: 2.346

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel and rated Green by Zornitza Stark. Updated rating from Grey to Green based on 2 papers (PMID:28657137 and PMID:32111619): 8 individuals from 4 unrelated families with SCID.
Created: 29 Apr 2020, 8:09 p.m. | Last Modified: 29 Apr 2020, 8:09 p.m.
Panel Version: 2.137
PMID:28657137. Paganini et al., 2017 report a North African family with AR Otofaciocervical syndrome (OFCS). Two of the children died from severe combined immunodeficiency (SCID) and had nonsense homozygous variants in PAX1. Functional studies were not performed.
Created: 29 Apr 2020, 8:07 p.m. | Last Modified: 29 Apr 2020, 8:07 p.m.
Panel Version: 2.134
PMID:32111619. Yamazaki et al examined the basis of SCID in 6 patients (3 unrelated families) with otofaciocervical syndrome type 2 who failed to attain T cell reconstitution after allogeneic hematopoietic stem cell transplantation. Severe immunologyical abnormalities include significant T cell lymphopenia (P1) and severe T cell lymphopenia (P3, P4, and P6).
Created: 29 Apr 2020, 8:07 p.m. | Last Modified: 29 Apr 2020, 8:07 p.m.
Panel Version: 2.134

Zornitza Stark (Australian Genomics)

Green List (high evidence)

6 individuals from three unrelated families.
Sources: Expert list
Created: 11 Apr 2020, 4:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Otofaciocervical syndrome 2, 615560
  • Syndromic SCID
  • dysmorphism
  • ear abnormalities
  • otofaciocervical syndrome
Tags
for-review
OMIM
167411
Clinvar variants
Variants in PAX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pax1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PAX1.

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: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PAX1 were changed from Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome to Otofaciocervical syndrome 2, 615560; Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome

29 Apr 2020, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PAX1 were set to 32111619

11 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PAX1 was added gene: PAX1 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 32111619 Phenotypes for gene: PAX1 were set to Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome Review for gene: PAX1 was set to GREEN gene: PAX1 was marked as current diagnostic