Predominantly Antibody Deficiency
Gene: PAX5EnsemblGeneIds (GRCh38): ENSG00000196092
EnsemblGeneIds (GRCh37): ENSG00000196092
OMIM: 167414, Gene2Phenotype
PAX5 is in 5 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single case report of bi-allelic variants:
2.5yo male with recurrent infections and hypogammaglobulinaemia, later also ASD, sensorimotor and cognitive defects. Functional studies showing reduced B cells. Mouse model replicating partial B cell developmental arrest as well as neurodevelopmental phenotype.Created: 15 Aug 2022, 10:11 a.m. | Last Modified: 15 Aug 2022, 10:11 a.m.
Panel Version: 1.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia
Publications
Peter McNaughton (Queensland Children's Hospital)
2.5yo male with recurrent infections and hypogammaglobulinaemia, later also ASD, sensorimotor and cognitive defects. Functional studies showing reduced B cells. Mouse model replicating partial B cell developmental arrest.
Sources: LiteratureCreated: 13 Aug 2022, 12:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypogammaglobulinaemia
Publications
- PMID: 35947077
Bryony Thompson (Royal Melbourne Hospital)
5 individuals from 4 families with large deletions involving PAX5 and 11 individuals from 9 families with frameshift/stopgain/missense variants and neurodevelopmental phenotypes that included delayed developmental milestones (DD), intellectual disability (ID), and/or ASD. 6 of the variants are de novo. Null mouse have retarded growth and altered patterning of the posterior midbrain. Pax5+/− mice of both sexes are hyperactive and have abnormal auditory brainstem responses.Created: 4 Feb 2022, 3:54 a.m. | Last Modified: 4 Feb 2022, 3:54 a.m.
Panel Version: 0.10911
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder MONDO:0700092
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neurodevelopmental disorder MONDO:0700092, PAX5-related
- Hypogammaglobulinaemia
- OMIM
- 167414
- Clinvar variants
- Variants in PAX5
- Penetrance
- None
- Publications
-
- PMID: 35947077
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PAX5 were changed from Hypogammaglobulinaemia to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PAX5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: PAX5 was added gene: PAX5 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: PAX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PAX5 were set to PMID: 35947077 Phenotypes for gene: PAX5 were set to Hypogammaglobulinaemia Review for gene: PAX5 was set to AMBER