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Intellectual disability syndromic and non-syndromic

Gene: PAX5

Green List (high evidence)

PAX5 (paired box 5)
EnsemblGeneIds (GRCh38): ENSG00000196092
EnsemblGeneIds (GRCh37): ENSG00000196092
OMIM: 167414, Gene2Phenotype
PAX5 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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, 10:13 a.m. | Last Modified: 15 Aug 2022, 10:13 a.m.
Panel Version: 0.4876

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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.
Sources: Literature
Created: 4 Feb 2022, 3:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, PAX5-related
  • Hypogammaglobulinaemia
OMIM
167414
Clinvar variants
Variants in PAX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX5 were changed from neurodevelopmental disorder MONDO:0700092 to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia

15 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380

15 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pax5 has been classified as Green List (High Evidence).

4 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pax5 has been classified as Green List (High Evidence).

4 Feb 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PAX5 was added gene: PAX5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PAX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380 Phenotypes for gene: PAX5 were set to neurodevelopmental disorder MONDO:0700092 Review for gene: PAX5 was set to GREEN