Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: POLD3
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.Created: 2 Nov 2023, 5 p.m. | Last Modified: 2 Nov 2023, 5 p.m.
Panel Version: 4.121
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe combined immunodeficiency, MONDO:0015974
Publications
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: LiteratureCreated: 12 Oct 2023, 11:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency with neurodevelopmental delay and hearing loss
Publications
Gene: pold3 has been classified as Amber List (Moderate Evidence).
Gene: pold3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: POLD3 were changed from Immunodeficiency with neurodevelopmental delay and hearing loss to severe combined immunodeficiency, MONDO:0015974
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