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| Disorders of immune dysregulation v2.0 | ITCH | Gene migrated from ENSG00000078747 to ENSG00000078747 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.36 | ITCH | Chirag Patel Phenotypes for gene: ITCH were changed from to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.35 | ITCH | Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.35 | ITCH | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.35 | ITCH | Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.35 | ITCH | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.35 | ITCH | Chirag Patel commented on gene: ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.35 | ITCH | Chirag Patel Mode of inheritance for gene: ITCH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.35 | ITCH | Chirag Patel Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.34 | ITCH | Chirag Patel Marked gene: ITCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.34 | ITCH | Chirag Patel Gene: itch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.27 | GNAI2 |
Zornitza Stark gene: GNAI2 was added gene: GNAI2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAI2 were set to 31036916; 40926810; 39298586 Phenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related Review for gene: GNAI2 was set to GREEN Added comment: PMID: 40926810 | 20 individuals from 18 families with a multisystem syndrome termed MAGIS (“Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects”) caused by heterozygous germline activating mutations. Considerable phenotypic heterogeneity with inter- and intra-familial variability. Majority of variants occur at recurrent residues Thr182 (Thr182Ala/Ile/Pro in six families) and Arg179 (Arg179His/Cys in seven patients from five families). The patients’ mutations were clustered in the P-loop and switch regions of the Ras-like domain of Gα, which is critical for guanine-nucleotide binding and GTPase activity. See PMID: 39298586 supplementary data for patient details of the above cohort. Other common features in the cohort also include intellectual disability (9/17), neurodevelopmental delay (13/19), motor delay (13/19), deafness (11/15), cryptochordism (7/14). Immune-mediated disease (95%) is widely present in MAGIS as both immunodeficiency (90%) and immune dysregulation (50%; systemic autoinflammation, 15%, autoimmunity, 35%, and splenomegaly, 35%). Sources: Literature |
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| Disorders of immune dysregulation v0.0 | ITCH |
Zornitza Stark gene: ITCH was added gene: ITCH was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ITCH was set to Unknown |
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