| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Combined Immunodeficiency v2.0 | LAT | Gene migrated from ENSG00000213658 to ENSG00000213658 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.30 | DMRT2 | Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.26 | PSMB10 |
Bryony Thompson gene: PSMB10 was added gene: PSMB10 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Red,Literature Mode of inheritance for gene: PSMB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMB10 were set to 38503300 Phenotypes for gene: PSMB10 were set to Severe combined immunodeficiency, MONDO:0015974, PSMB10-related |
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| Severe Combined Immunodeficiency v1.12 | DMRT2 |
Krithika Murali gene: DMRT2 was added gene: DMRT2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature Mode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292 Phenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related Review for gene: DMRT2 was set to AMBER Added comment: Severe skeletal manifestations is the overlapping feature between the 2 unrelated patients reported and the mouse model. PMID: 41014130 report one of the patients also had absence of TRECs suggestive of SCID on NBS wtih thymic aplasia. Laboratory tests showed profound lyphopenia, near absence of CD3+ T cells, low CD8+ and CD4+ T cells, expansion of B-cells and NK cells with elevation of several immunoglobulins. Patient developed severe CMV pneumonitis and bacterial infections leading to death at 3 months of age. Have included as Amber rather than Red for immunodeficiency given the rarity of cases overall for this skeletal dysplasia. Sources: Literature |
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| Severe Combined Immunodeficiency v1.11 | TP63 | Zornitza Stark Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.10 | TP63 | Zornitza Stark edited their review of gene: TP63: Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.9 | TP63 | Zornitza Stark Phenotypes for gene: TP63 were changed from lymphopaenia to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.7 | TP63 | Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 39364398; Phenotypes: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.1 |
Zornitza Stark HPO terms changed from to Severe combined immunodeficiency, HP:0004430 List of related panels changed from to Severe combined immunodeficiency; HP:0004430 Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease |
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| Severe Combined Immunodeficiency v0.7 | PAX1 |
Zornitza Stark gene: PAX1 was added gene: PAX1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature 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 Added comment: 6 individuals from three unrelated families. Sources: Literature |
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| Severe Combined Immunodeficiency v0.4 | LAT | Zornitza Stark Marked gene: LAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v0.4 | LAT | Zornitza Stark Gene: lat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v0.4 | LAT | Zornitza Stark Classified gene: LAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v0.4 | LAT | Zornitza Stark Gene: lat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v0.3 | LAT |
Zornitza Stark gene: LAT was added gene: LAT was added to Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAT were set to 27522155; 27242165; 10204488 Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514 Review for gene: LAT was set to GREEN Added comment: At least two families and good functional data. Sources: Expert list |
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