FAM161A Chromosome 2
FAM161 centrosomal protein A
Upload your DNA to see your personal genotypes for variants in FAM161A.
What This Gene Does
This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]
Associated Conditions (10)
Retinitis pigmentosa
Retinitis pigmentosa 28
Retinal dystrophy
FAM161A-related disorder
Inborn genetic diseases
Autosomal recessive retinitis pigmentosa
Cone-rod dystrophy
Thyroid cancer
nonmedullary
1
Key Variants
RS1184952883
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1253790930
Conflicting classifications of pathogenicity
Retinitis pigmentosa 28, Retinal dystrophy, Retinitis pigmentosa 28
Health Risk
RS138464813
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 28, Retinitis pigmentosa
Health Risk
RS139266382
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 28, FAM161A-related disorder
Health Risk
RS140622968
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS145199539
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 28, Retinitis pigmentosa
Health Risk
RS149314387
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS187695569
Conflicting classifications of pathogenicity
Retinitis pigmentosa 28, Retinitis pigmentosa, FAM161A-related disorder
Health Risk
RS199759978
Conflicting classifications of pathogenicity
Retinitis pigmentosa 28, Inborn genetic diseases, FAM161A-related disorder
Health Risk
RS200160715
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS200976538
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS201315315
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
All Variants (183)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2466033324 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466033468 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2466033546 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466033601 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466073590 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466073677 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466073768 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466073838 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466073952 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466074220 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS753144249 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS756891880 | Health Risk | Likely pathogenic | — |
| RS757001860 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS769064430 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS777319845 | Health Risk | Likely pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS781661338 | Health Risk | Likely pathogenic | — |
| RS1178184685 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 28, Retinitis pigmentosa |
| RS1222457762 | Health Risk | Pathogenic | — |
| RS1294295448 | Health Risk | Pathogenic | — |
| RS1316281505 | Health Risk | Pathogenic | Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa 28 |
| RS1323094309 | Health Risk | Pathogenic | — |
| RS1342829770 | Health Risk | Pathogenic | — |
| RS1375972743 | Health Risk | Pathogenic | — |
| RS1413863796 | Health Risk | Pathogenic | — |
| RS1477715874 | Health Risk | Pathogenic | — |
| RS1553354522 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1553354861 | Health Risk | Pathogenic | Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 28 |
| RS1572879569 | Health Risk | Pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS1672402787 | Health Risk | Pathogenic | Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS1672760852 | Health Risk | Pathogenic | — |
| RS1672919182 | Health Risk | Pathogenic | — |
| RS1672921868 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1672928309 | Health Risk | Pathogenic | — |
| RS1672931057 | Health Risk | Pathogenic | — |
| RS1672938022 | Health Risk | Pathogenic | — |
| RS1672948970 | Health Risk | Pathogenic | — |
| RS1672953502 | Health Risk | Pathogenic | — |
| RS1672964817 | Health Risk | Pathogenic | — |
| RS200691042 | Health Risk | Pathogenic | Retinitis pigmentosa 28, Cone-rod dystrophy, Retinitis pigmentosa |
| RS2105073699 | Health Risk | Pathogenic | — |
| RS2105073705 | Health Risk | Pathogenic | — |
| RS2105073911 | Health Risk | Pathogenic | — |
| RS2105077920 | Health Risk | Pathogenic | — |
| RS2105077955 | Health Risk | Pathogenic | — |
| RS2105080409 | Health Risk | Pathogenic | — |
| RS2105080565 | Health Risk | Pathogenic | — |
| RS2105080679 | Health Risk | Pathogenic | — |
| RS2105080884 | Health Risk | Pathogenic | — |
| RS2105080958 | Health Risk | Pathogenic | — |
| RS2105081486 | Health Risk | Pathogenic | — |