Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PAX1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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
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
6 individuals from three unrelated families.
Sources: Expert listCreated: 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
Tag for-review was removed from gene: PAX1.
Source Expert Review Green was added to PAX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pax1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: PAX1.
Gene: pax1 has been classified as Green List (High Evidence).
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
Publications for gene: PAX1 were set to 32111619
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