FAM161A Chromosome 2

FAM161 centrosomal protein A
183 variants 183 Health Risk

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
RS1167380267 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 28, Retinal dystrophy
RS1281095503 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1292802544 Health Risk Pathogenic/Likely pathogenic —
RS1355275335 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1672982825 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1673040470 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS186972495 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105073672 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105073741 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105080547 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105080977 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105086630 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105111295 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 28, Retinitis pigmentosa
RS2466022357 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466023933 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466028553 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466029102 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466033888 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS4672457 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 28, Retinitis pigmentosa
RS531265943 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS549784796 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS748847284 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa, Retinitis pigmentosa 28
RS750185328 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS758751113 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinal dystrophy, Retinitis pigmentosa 28
RS761440783 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 28, Retinal dystrophy
RS762087385 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa, Retinitis pigmentosa 28
RS764845483 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS767414973 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa, Retinal dystrophy
RS769445913 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS776996002 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS777004968 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS777579457 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinal dystrophy, Retinitis pigmentosa 28
RS928348793 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa, Retinitis pigmentosa 28
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