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Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Arina Puzriakova Tag gene-checked tag was added to gene: NUDCD3.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Eleanor Williams Tag Q2_24_promote_green was removed from gene: NUDCD3.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Eleanor Williams reviewed gene: NUDCD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 NUDCD3 Eleanor Williams Source NHS GMS was added to NUDCD3.
Source Expert Review Green was added to NUDCD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although all four unrelated families had the same variant, there is functional evidence available for the variant. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: Although all four unrelated families harboured the same variant, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram Classified gene: NUDCD3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although all four unrelated families had the same variant, there is functional evidence available for the variant. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram Gene: nudcd3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v5.4 NUDCD3 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: NUDCD3.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.4 NUDCD3 Achchuthan Shanmugasundram gene: NUDCD3 was added
gene: NUDCD3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD3 were set to 38787962
Phenotypes for gene: NUDCD3 were set to severe combined immunodeficiency, MONDO:0015974; Omenn syndrome, MONDO:0011338
Review for gene: NUDCD3 was set to GREEN
Added comment: PMID:38787962 reported 11 patients across four consanguineous kindreds with a single deleterious missense variant in NUDCD3 gene in homozygous state. Two infants had severe combined immunodeficiency with the complete absence of T and B cells), whereas nine showed classical features of Omenn syndrome.

Patient cells showed reduced expression of NUDCD3 protein and diminished ability to support RAG-mediated recombination in vitro. Although impaired V(D)J recombination in a mouse model bearing the homologous variant led to milder immunologic abnormalities, NUDCD3 is absolutely required for healthy T and B cell development in humans.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature