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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.453 | ARHGAP42 | Arina Puzriakova Classified gene: ARHGAP42 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.453 | ARHGAP42 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Only a single individual reported to date with a homozygous stop-gain variant in ARHGAP42 associated with immunological findings, among other features (PMID: 34232960). Rating Red, awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.453 | ARHGAP42 | Arina Puzriakova Gene: arhgap42 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 | ARHGAP42 |
Zornitza Stark gene: ARHGAP42 was added gene: ARHGAP42 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGAP42 were set to 34232960 Phenotypes for gene: ARHGAP42 were set to Interstitial lung disease; systemic hypertension; immunological abnormalities Review for gene: ARHGAP42 was set to RED Added comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings. Sources: Literature |
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