Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.56 | FLT3LG | Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed 22nd October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.56 | FLT3LG | Eleanor Williams Phenotypes for gene: FLT3LG were changed from ?Immunodeficiency 125 , OMIM:620926 to ?Immunodeficiency 125 , OMIM:620926; immunodeficiency 125, MONDO:0975749 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.27 | FLT3LG | Arina Puzriakova Publications for gene: FLT3LG were set to 38701783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.26 | FLT3LG | Arina Puzriakova Classified gene: FLT3LG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.26 | FLT3LG |
Arina Puzriakova Added comment: Comment on list classification: Rating Amber, awaiting further evidence - only a single family reported to date but phenotype is recapitulated by null mouse model. - PMID: 38701783 (2024) - three sibs from a consanguineous family with a homozygous frameshift variant and recurrent infections, including severe cutaneous warts, and hypoplastic bone marrow. - PMID: 10828034 (2000) - null mouse model recapitulates bone marrow findings |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.26 | FLT3LG | Arina Puzriakova Gene: flt3lg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.25 | FLT3LG | Arina Puzriakova Phenotypes for gene: FLT3LG were changed from Immunodeficiency; warts to ?Immunodeficiency 125 , OMIM:620926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | FLT3LG |
Boaz Palterer gene: FLT3LG was added gene: FLT3LG was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLT3LG were set to 38701783 Phenotypes for gene: FLT3LG were set to Immunodeficiency; warts Penetrance for gene: FLT3LG were set to unknown Review for gene: FLT3LG was set to AMBER Added comment: Momenilandi et al. described three patients homozygous for a loss-of-function FLT3LG variant, with a history of various recurrent infections, including severe cutaneous warts. Extensive functional ex vivo and in vitro data. Sources: Literature |
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