| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ocular and Oculocutaneous Albinism v1.11 | AP3D1 | Zornitza Stark Marked gene: AP3D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.11 | AP3D1 | Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.11 | AP3D1 | Zornitza Stark Phenotypes for gene: AP3D1 were changed from Hermansky-Pudlak Syndrome 10 to Hermansky-Pudlak syndrome 10, MIM# 617050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.10 | AP3D1 | Zornitza Stark Classified gene: AP3D1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.10 | AP3D1 | Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.9 | AP3D1 | Zornitza Stark reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.9 | AP3D1 |
John Coleman gene: AP3D1 was added gene: AP3D1 was added to Ocular and Oculocutaneous Albinism. Sources: Expert Review,Literature,NHS GMS Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3D1 were set to (PMID: 26744459; 30472485; 19032734; 36445457) Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak Syndrome 10 Penetrance for gene: AP3D1 were set to unknown Review for gene: AP3D1 was set to AMBER Added comment: First family Turkish consanguineous with with severe neurologic impairment, oculocutaneous albinism, and immunodeficiency. PTC variant. Progressive epilepsy with intractable seizures (myoclonic jerks/ tonic clonic) and passed away 3.5 years (PMID: 26744459). Features of this case included infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. Another consanguineous family with Frameshift variants with 1 male and 2 females with seizures seizures (male 10 years, females shortly after birth), tonic clonic (PMID: 30472485) and other features of Hermansky-Pudlak Syndrome 10 (including platelet defects, oculocutaneous albinism, and immunodeficiency). Mouse model (19032734) shows knock out of AP3D1 shows albinism characteristics, difference in input resistance of the neurons, a difference in the synaptic short-term plasticity of glutamatergic autapses showing a larger synaptic depression than controls. 2023 paper (PMID 36445457) shows a family with missense homozygous variants - they present with hearing loss, 2 siblings with neurodevelopmental delay and 2 with abnormality of the brain structurally, no albinism in this family. 2 affected families with PTCs but albinism phenotype not clear in all cases. Imp: moderate evidence ?2 affected plus affected albinism mice knock out model = suspicious. Amber on Panel App UK. Sources: Expert Review, Literature, NHS GMS |
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