Activity
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9 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.59 | RAP1B | Achchuthan Shanmugasundram Tag somatic tag was added to gene: RAP1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.59 | RAP1B | Achchuthan Shanmugasundram Classified gene: RAP1B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.59 | RAP1B |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Only one recent case from PMID:39225097 (2024) presented with combined immunodeficiency in addition to thrombocytopenia and other previously reported phenotypes. The variant from this patient was somatic rather than germline. So, the 'somatic' tag has been added. All the other cases were reported with thrombocytopenia and congenital anomalies. Hence, this gene should be rated red on this panel. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.59 | RAP1B | Achchuthan Shanmugasundram Gene: rap1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.58 | RAP1B | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 24 October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.58 | RAP1B | Achchuthan Shanmugasundram Phenotypes for gene: RAP1B were changed from thrombocytopenia; leukopenia; lymphopenia; anemia; splenomegaly; immunodeficiency; preauricular tag; upslanting palpebral fissures; flat midface; scarce eyebrows; low-set and posteriorly rotated ears; hypoplastic teeth; umbilical hernia, and genitourinary abnormalities; hydronephrosis; vesicoureteral reflux; unilateral cryptorchidism to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654; thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.57 | RAP1B | Achchuthan Shanmugasundram Publications for gene: RAP1B were set to 39225097 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.56 | RAP1B | Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32627184, 35451551, 37850357, 39225097; Phenotypes: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654, thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | RAP1B |
Boaz Palterer gene: RAP1B was added gene: RAP1B was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: RAP1B was set to Other Publications for gene: RAP1B were set to 39225097 Phenotypes for gene: RAP1B were set to thrombocytopenia; leukopenia; lymphopenia; anemia; splenomegaly; immunodeficiency; preauricular tag; upslanting palpebral fissures; flat midface; scarce eyebrows; low-set and posteriorly rotated ears; hypoplastic teeth; umbilical hernia, and genitourinary abnormalities; hydronephrosis; vesicoureteral reflux; unilateral cryptorchidism Penetrance for gene: RAP1B were set to unknown Mode of pathogenicity for gene: RAP1B was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAP1B was set to GREEN Added comment: Heterozygous mutation in RAP1B are associated with Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies ( OMIM #620654 ). Variants have been shown to be gain of function. Wide spectrum of disease presentation, germline variants associated with full spectrum of disease, reported somatic variants presenting with isolated hematological disease. Varying degree of immunodeficiency, leukopenia and lymphopenia, relevant to this panel. Sources: Literature |
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