Ocular and Oculocutaneous Albinism
Gene: TPCN2EnsemblGeneIds (GRCh38): ENSG00000162341
EnsemblGeneIds (GRCh37): ENSG00000162341
OMIM: 612163, Gene2Phenotype
TPCN2 is in 2 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
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: LiteratureCreated: 2 Feb 2023, 3:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypopigmentation of the skin, TPCN2-related MONDO:0019290
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hypopigmentation of the skin MONDO:0019290
- OMIM
- 612163
- Clinvar variants
- Variants in TPCN2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: tpcn2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: tpcn2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Paul De Fazio (Victorian Clinical Genetics Services)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