| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Disorders of immune dysregulation v2.4 | PPL | chirag patel Marked gene: PPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v2.4 | PPL | chirag patel Gene: ppl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v2.4 | chirag patel Copied gene PPL from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v2.4 | PPL |
chirag patel gene: PPL was added gene: PPL was added to Disorders of immune dysregulation. Sources: Expert Review Green,Literature Mode of inheritance for gene: PPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPL were set to 34815391 Phenotypes for gene: PPL were set to Eosinophilic esophagitis, MONDO:0005361 |
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| 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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