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| Predominantly Antibody Deficiency v0.119 | PAX5 | Zornitza Stark Marked gene: PAX5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | PAX5 | Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | PAX5 | Zornitza Stark Phenotypes for gene: PAX5 were changed from Hypogammaglobulinaemia to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.118 | PAX5 | Zornitza Stark Mode of inheritance for gene: PAX5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.117 | PAX5 | Zornitza Stark Classified gene: PAX5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.117 | PAX5 | Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.116 | PAX5 |
Peter McNaughton 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 Added comment: 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: Literature |
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