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| Mendeliome v0.2180 | POLE2 | Zornitza Stark Marked gene: POLE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2180 | POLE2 | Zornitza Stark Gene: pole2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1916 | POLE2 |
Zornitza Stark gene: POLE2 was added gene: POLE2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE2 were set to 26365386 Phenotypes for gene: POLE2 were set to Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism Review for gene: POLE2 was set to RED Added comment: Single family reported with homozygous splice site variant. Sources: Expert list |
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