Activity
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7 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 | CD274 | Arina Puzriakova edited their review of gene: CD274: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 | CD274 | Arina Puzriakova Classified gene: CD274 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 | CD274 | Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single family has been reported to date with a biallelic variant (c.682+1G>A) in this gene linked to an autoimmune disorder characterised by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency (PMID: 38634869) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 | CD274 | Arina Puzriakova Gene: cd274 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.52 | CD274 | Arina Puzriakova Publications for gene: CD274 were set to PMID: 38634869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.51 | CD274 | Arina Puzriakova Phenotypes for gene: CD274 were changed from ?Autoimmune disease, multisystem, infantile-onset, 5 to ?Autoimmune disease, multisystem, infantile-onset, 5, OMIM:621235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.19 | CD274 |
Hannah Knight gene: CD274 was added gene: CD274 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD274 were set to PMID: 38634869 Phenotypes for gene: CD274 were set to ?Autoimmune disease, multisystem, infantile-onset, 5 Review for gene: CD274 was set to RED Added comment: In 2 sibs, born of consanguineous Moroccan parents, PMID: 38634869 identified a homozygous splice site mutation in the CD274 gene. Both presented with neonatal onset of type 1 diabetes mellitus. The male proband subsequently developed asthma at 5 months of age, autoimmune hypothyroidism at age 3 years, and growth hormone deficiency at age 10. The boy also had mildly impaired intellectual development and speech delay that was attributed to a de novo heterozygous duplication at 7q11.23, which is associated with neurologic phenotypes and growth hormone deficiency. The sister, who did not have this duplication, had no clinical manifestations other than type 1 diabetes Sources: Literature |
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