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Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 | POLD3 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 | POLD3 | Achchuthan Shanmugasundram Classified gene: POLD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 | POLD3 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is one patient identified with homozygous POLD3 variant (p.Ile10Thr) and reported with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss. In addition, there is also functional evidence for this variant. Hence, this gene is promoted to amber rating. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 | POLD3 | Achchuthan Shanmugasundram Gene: pold3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 | POLD3 | Achchuthan Shanmugasundram Classified gene: POLD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 | POLD3 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is one patient identified with homozygous POLD3 variant (p.Ile10Thr) and reported with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss. In addition, there is also functional evidence for this variant. Hence, this gene is promoted to amber rating. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 | POLD3 | Achchuthan Shanmugasundram Gene: pold3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.120 | POLD3 | Achchuthan Shanmugasundram Phenotypes for gene: POLD3 were changed from Immunodeficiency with neurodevelopmental delay and hearing loss to severe combined immunodeficiency, MONDO:0015974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.119 | POLD3 | Achchuthan Shanmugasundram reviewed gene: POLD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 37030525; Phenotypes: severe combined immunodeficiency, MONDO:0015974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 | POLD3 |
Hannah Knight gene: POLD3 was added gene: POLD3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD3 were set to 37030525 Phenotypes for gene: POLD3 were set to Immunodeficiency with neurodevelopmental delay and hearing loss Review for gene: POLD3 was set to AMBER Added comment: PMID: 37030525 - homozygous POLD3 variant (p.Ile10Thr) in a consanguinous Lebanese family, presenting with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss Sources: Literature |