RGD Reference Report - Genes and mutations causing retinitis pigmentosa. - Rat Genome Database

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Genes and mutations causing retinitis pigmentosa.

Authors: Daiger, SP  Sullivan, LS  Bowne, SJ 
Citation: Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
RGD ID: 8547535
Pubmed: PMID:23701314   (View Abstract at PubMed)
PMCID: PMC3856531   (View Article at PubMed Central)
DOI: DOI:10.1111/cge.12203   (Journal Full-text)

Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. Progress in finding treatments is dependent on determining the genes and mutations causing these diseases, which includes both gene discovery and mutation screening in affected individuals and families. Despite the complexity, substantial progress has been made in finding RP genes and mutations. Depending on the type of RP, and the technology used, it is possible to detect mutations in 30-80% of cases. One of the most powerful approaches to genetic testing is high-throughput 'deep sequencing', that is, next-generation sequencing (NGS). NGS has identified several novel RP genes but a substantial fraction of previously unsolved cases have mutations in genes that are known causes of retinal disease but not necessarily RP. Apparent discrepancy between the molecular defect and clinical findings may warrant reevaluation of patients and families. In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinitis pigmentosa  TAS 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535 RGD 
retinitis pigmentosa  ISOABCA4 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOBEST1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOCLRN1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOCNGA1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOCNGB1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOCRX (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOGUCA1B (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOLRAT (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISONR2E3 (Homo sapiens)8547535 RGD 
retinitis pigmentosa  ISOPDE6A (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOPDE6G (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOPRPF31 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOPRPF8 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOPRPH2 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISORBP3 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISORDH12 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISORHO (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISORLBP1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISORP1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISORPE65 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISORPGR (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOSAG (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOTULP1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa  ISOUSH2A (Homo sapiens)8547535; 8547535 RGD 
Usher syndrome  TAS 8547535; 8547535 RGD 
Usher syndrome  ISOCLRN1 (Homo sapiens)8547535; 8547535 RGD 
Usher syndrome  ISOUSH2A (Homo sapiens)8547535; 8547535 RGD 

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinitis pigmentosa pathway   TAS 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOABCA4 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOBEST1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOCLRN1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOCNGA1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOCNGB1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOCRX (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOGUCA1B (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOLRAT (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISONR2E3 (Homo sapiens)8547535 RGD 
retinitis pigmentosa pathway   ISOPDE6A (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOPDE6B (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOPDE6G (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOPRPF31 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOPRPF8 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOPRPH2 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISORBP3 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISORDH12 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISORHO (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISORLBP1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISORP1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISORPE65 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISORPGR (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOSAG (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOTULP1 (Homo sapiens)8547535; 8547535 RGD 
retinitis pigmentosa pathway   ISOUSH2A (Homo sapiens)8547535; 8547535 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Abca4  (ATP binding cassette subfamily A member 4)
Best1  (bestrophin 1)
Clrn1  (clarin 1)
Cnga1  (cyclic nucleotide gated channel subunit alpha 1)
Cngb1  (cyclic nucleotide gated channel subunit beta 1)
Crx  (cone-rod homeobox)
Guca1b  (guanylate cyclase activator 1B)
Lrat  (lecithin retinol acyltransferase)
Pde6a  (phosphodiesterase 6A)
Pde6b  (phosphodiesterase 6B)
Pde6g  (phosphodiesterase 6G)
Prpf31  (pre-mRNA processing factor 31)
Prpf8  (pre-mRNA processing factor 8)
Prph2  (peripherin 2)
Rbp3  (retinol binding protein 3)
Rdh12  (retinol dehydrogenase 12)
Rho  (rhodopsin)
Rlbp1  (retinaldehyde binding protein 1)
Rp1  (RP1, axonemal microtubule associated)
Rpe65  (retinoid isomerohydrolase RPE65)
Rpgr  (retinitis pigmentosa GTPase regulator)
Sag  (S-antigen visual arrestin)
Tulp1  (TUB like protein 1)
Ush2a  (usherin)

Genes (Mus musculus)
Abca4  (ATP-binding cassette, sub-family A member 4)
Best1  (bestrophin 1)
Clrn1  (clarin 1)
Cnga1  (cyclic nucleotide gated channel alpha 1)
Cngb1  (cyclic nucleotide gated channel beta 1)
Crx  (cone-rod homeobox)
Guca1b  (guanylate cyclase activator 1B)
Lrat  (lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase))
Nr2e3  (nuclear receptor subfamily 2, group E, member 3)
Pde6a  (phosphodiesterase 6A, cGMP-specific, rod, alpha)
Pde6b  (phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide)
Pde6g  (phosphodiesterase 6G, cGMP-specific, rod, gamma)
Prpf31  (pre-mRNA processing factor 31)
Prpf8  (pre-mRNA processing factor 8)
Prph2  (peripherin 2)
Rbp3  (retinol binding protein 3, interstitial)
Rdh12  (retinol dehydrogenase 12)
Rho  (rhodopsin)
Rlbp1  (retinaldehyde binding protein 1)
Rp1  (retinitis pigmentosa 1 (human))
Rpe65  (retinal pigment epithelium 65)
Rpgr  (retinitis pigmentosa GTPase regulator)
Sag  (S-antigen, retina and pineal gland (arrestin))
Tulp1  (TUB like protein 1)
Ush2a  (usherin)

Genes (Homo sapiens)
ABCA4  (ATP binding cassette subfamily A member 4)
BEST1  (bestrophin 1)
CLRN1  (clarin 1)
CNGA1  (cyclic nucleotide gated channel subunit alpha 1)
CNGB1  (cyclic nucleotide gated channel subunit beta 1)
CRX  (cone-rod homeobox)
EYS  (eyes shut homolog)
GUCA1B  (guanylate cyclase activator 1B)
LRAT  (lecithin retinol acyltransferase)
NR2E3  (nuclear receptor subfamily 2 group E member 3)
PDE6A  (phosphodiesterase 6A)
PDE6B  (phosphodiesterase 6B)
PDE6G  (phosphodiesterase 6G)
PRPF31  (pre-mRNA processing factor 31)
PRPF8  (pre-mRNA processing factor 8)
PRPH2  (peripherin 2)
RBP3  (retinol binding protein 3)
RDH12  (retinol dehydrogenase 12)
RHO  (rhodopsin)
RLBP1  (retinaldehyde binding protein 1)
RP1  (RP1 axonemal microtubule associated)
RPE65  (retinoid isomerohydrolase RPE65)
RPGR  (retinitis pigmentosa GTPase regulator)
SAG  (S-antigen visual arrestin)
TULP1  (TUB like protein 1)
USH2A  (usherin)


Additional Information