OMIA:000369-311895 : Feather colour, oculocutaneous albinism type I (OCA1), TYR-related in Pyrrhura molinae (green‐cheeked parakeet) |
In other species: northern bobwhite , chicken , common canary , budgerigar , Fischer's lovebird
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606933 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2025
Cross-species summary: Renamed from 'Feather colour, albinism' to 'Feather colour, oculocutaneous albinism type I (OCA1), TYR-related' [20/04/2025]
Molecular basis: Ghosh Roy et al. (2025) identified the likely causal variant for the non-sex-linked recessive lutino (NSL) colour morph by sequence analysis of functional candidate genes: TYR c.1111C>T, p.(H371Y).
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1789 | Feather colour, non-sex-linked lutino | TYR | substitution | missense | Naturally occurring variant | Not currently evaluated | ASM1176335v2 (GCA_011763355.2) | c.1111C>T | p.(H371Y) | 2025 | 40195888 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:000369-311895: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Ghosh Roy, S., Brejcha, J., Mojzeš, P., Abdu, M., Abdu, U. : |
| The role of two tyrosinase-like glycoenzymes in defining the final Hue of parrot plumage. Pigment Cell Melanoma Res 38:e70010, 2025. Pubmed reference: 40195888. DOI: 10.1111/pcmr.70010. |
Edit History
- Created by Imke Tammen2 on 20 Apr 2025
- Changed by Imke Tammen2 on 20 Apr 2025