| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ocular and Oculocutaneous Albinism v1.8 | TPCN2 | Seb Lunke Marked gene: TPCN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.8 | TPCN2 | Seb Lunke Gene: tpcn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.8 | TPCN2 | Seb Lunke Classified gene: TPCN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.8 | TPCN2 | Seb Lunke Gene: tpcn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.7 | TPCN2 | Paul De Fazio edited their review of gene: TPCN2: Changed phenotypes: Hypopigmentation of the skin, TPCN2-related MONDO:0019290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular and Oculocutaneous Albinism v1.7 | TPCN2 |
Paul De Fazio gene: TPCN2 was added gene: TPCN2 was added to Ocular and Oculocutaneous Albinism. Sources: Literature Mode of inheritance for gene: TPCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPCN2 were set to 36641477 Phenotypes for gene: TPCN2 were set to Hypopigmentation of the skin MONDO:0019290 Mode of pathogenicity for gene: TPCN2 was set to Other Review for gene: TPCN2 was set to AMBER gene: TPCN2 was marked as current diagnostic Added comment: A de novo variant in TPCN2, R210C, was identified in a girl who exhibited white skin, blonde hair that darkened to brown with age, no apparent nystagmus and photophobia, and normal vision acuity. Color fundus photography and optical coherence tomography (OCT) showed normal and well-developed macula and fovea. The variant has 1 het in gnomad. Mice harbouring the homologous variant recapitulate the phenotype. Functional testing indicates the variant has a gain of function effect. Sources: Literature |
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