Gene: FAM161A

Alternate names for this Gene: RP28

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p15

Description of this Gene: FAM161 centrosomal protein A

Type of Gene: protein-coding

rs200691042 in FAM161A gene and RETINITIS PIGMENTOSA 28 PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26574802 2015 A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

PMID 20705278 2010 Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

PMID 20705279 2010 Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

PMID 24651477 2014 Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

rs200691042 in FAM161A gene and Retinal Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs200691042 in FAM161A gene and Retinitis Pigmentosa PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20705278 2010 Another homozygous FAM161A stop mutation (p.Arg437X) was detected in three subjects from a cohort of 118 apparently unrelated German RP patients.

PMID 26113502 2015 Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

PMID 26574802 2015 Subsequent ARMS analysis and Sanger sequencing in Dutch and Belgian arRP patients resulted in the identification of seven additional individuals carrying the p.(Arg437*) mutation, either homozygously or compound heterozygously with another mutation.

PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.