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Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 AP3D1 Eleanor Williams Classified gene: AP3D1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 AP3D1 Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber. Two cases now reported.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 AP3D1 Eleanor Williams Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 AP3D1 Eleanor Williams edited their review of gene: AP3D1: Added comment: Provisionally associated with Hermansky-Pudlak syndrome 10 #617050 (AR) in OMIM.

PMID: 30472485 - Mohammad et al 2019 - 1 family with parents who were first cousins with three affected children who presented similarly with severe seizures, developmental delay, albinism, and immunodeficiency. Whole exome sequencing identified homozygosity for AP3D1 deleterious sequence variant (NM_001261826.3:c.1978delG: p.Ala660Argfs*54) which co-segregated with the phenotype. The variant is not found in the gnomAD database or in an in-house database of 284 exome or Middle Eastern population specific database.

PMID: 26744459 - Ammann et al 2016 - report a patient with consanguineous Turkish parents presenting with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing. Whole exome sequencing identified a homozygous mutation in AP3D1 (c.3565_3566delGT) that leads to destabilization of the adaptor protein 3 (AP3) complex.; Changed rating: AMBER; Changed phenotypes: Hermansky-Pudlak syndrome 10, 617050; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 AP3D1 Eleanor Williams Source Other was added to AP3D1.
Publications for gene AP3D1 were updated from 32048120; 26744459; 32086639 to 32086639; 26744459; 30472485; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 AP3D1 Eleanor Williams reviewed gene: AP3D1: Rating: ; Mode of pathogenicity: ; Publications: 30472485, 26744459; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 AP3D1 Louise Daugherty Source IUIS Classification December 2019 was added to AP3D1.
Added phenotypes Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay for gene: AP3D1
Publications for gene AP3D1 were updated from 26744459 to 32048120; 26744459; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease AP3D1 Louise Daugherty commented on gene: AP3D1
Primary immunodeficiency or monogenic inflammatory bowel disease AP3D1 Louise Daugherty commented on gene: AP3D1
Primary immunodeficiency or monogenic inflammatory bowel disease AP3D1 Louise Daugherty marked gene: AP3D1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease AP3D1 Sophie Hambleton reviewed gene: AP3D1
Primary immunodeficiency or monogenic inflammatory bowel disease AP3D1 Louise Daugherty Added gene to panel