Kategorie:
PubID
Gen
MIM
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 20301590 Retinitis Pigmentosa Overview Gene Reviews
ABCA4
20797687 Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
ABHD12
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. ARVO Abstract A Missesne Mutation in the Acetyl-CoA Carboxylase β Gene Involved in Lipid Metabolism is Associated with Autosomal Recessive Retinitis Pigmentosa
ACACB
23105016 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
ADGRA3
26662040 ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.
ADIPOR1
26720455 Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
AGBL5
23849777 Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
ARL2BP
20301590 Retinitis Pigmentosa Overview Gene Reviews
ARL6
27106100 A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
ASRGL1
25541840 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
BBS2
26355662 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
BBS4
19853238 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
BEST1
20301590 Retinitis Pigmentosa Overview Gene Reviews
C8orf37
18387594 CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
CC2D2A
26355662 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
CDH16
20301590 Retinitis Pigmentosa Overview Gene Reviews
CERKL
21310491 Khan, M. I., Kersten, F. F. J., Azam, M., Collin, R. W. J., Hussain, A., Shah, S. T-A., Keunen, J. E. E., Kremer, H., Cremers, F. P. M., Qamar, R., den Hollander, A. I. CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
CLRN1
20301590 Retinitis Pigmentosa Overview Gene Reviews
CNGA1
20301590 Retinitis Pigmentosa Overview Gene Reviews
CNGB1
20301590 Retinitis Pigmentosa Overview Gene Reviews
CRB1
23661369 Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
CYP4V2
20301590 Retinitis Pigmentosa Overview Gene Reviews
DHDDS
24737827 A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
DHX38
26355662 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
DNAJC17
23105016 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
EMC1
18836446 Abd El-Aziz, M, et al. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nature Genet. 40: 1285-1287, 2008.
EYS
20301590 Retinitis Pigmentosa Overview Gene Reviews
FAM161A
23591405 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
FLVCR1
21792934 Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
GNPTG
26355662 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
GNS
- ARVO Annual Meeting Abstract June 2013 Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies 25122145 Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
GRID2
25859010 Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
HGSNAT
20301590 Retinitis Pigmentosa Overview Gene Reviews
IDH3B
26216056 Mutations in human IFT140 cause non-syndromic retinal degeneration.
IFT140
25168386 Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
IFT172
23993198 Mutations in IMPG1 cause vitelliform macular dystrophies.
IMPG1
20673862 Bandah-Rozenfeld D et al.Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.Am J Hum Genet. 2010 Aug 13;87(2):199-208.
IMPG2
24938718 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
KIAA1549
24680887 Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
KIZ
26932191 Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
LAMA1
20301590 Retinitis Pigmentosa Overview Gene Reviews
LRAT
20301590 Retinitis Pigmentosa Overview Gene Reviews
MAK
20301590 Retinitis Pigmentosa Overview Gene Reviews
MERTK
25227500 Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy
MFSD8
21862650 Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
MPDZ
12630961 Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
MTTP
24084495 Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
MVK
24043777 Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
NEK2
25477324 A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.
NEUROD1
20301590 Retinitis Pigmentosa Overview Gene Reviews 18294254 Bernal, S. et al.
NR2E3
20301590 Retinitis Pigmentosa Overview Gene Reviews 17335001 Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 15591106 Nishiguchi, K. M.,
NRL
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 20301590 Retinitis Pigmentosa Overview Gene Reviews
PCARE
20301590 Retinitis Pigmentosa Overview Gene Reviews 7493036 Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
PDE6A
20301590 Retinitis Pigmentosa Overview Gene Reviews
PDE6B
20301590 Retinitis Pigmentosa Overview Gene Reviews 20655036 Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
PDE6G
26306921 Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
PLA2G5
25299038 PNPLA6-Related Disorders 25574898 Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
PNPLA6
20301590 Retinitis Pigmentosa Overview Gene Reviews 23805042 Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
PRCD
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PROM1
12923864 Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
PRPF31
20301590 Nonsyndromic Retinitis Pigmentosa Overview.
PRPH2
20301590 Retinitis Pigmentosa Overview Gene Reviews 19074801 A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
RBP3
23189188 Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. 9888420 Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.
RBP4
24916380 New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
RDH11
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
RDH12
10369264 Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
RDH5
20301590 Retinitis Pigmentosa Overview Gene Reviews 10581022 Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
RGR
23386608 Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.
RHBDD2
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
RHO
20301590 Retinitis Pigmentosa Overview Gene Reviews
RLBP1
24265693 Eisenberger T. et al. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.PLoS One. 2013 Nov 12;8(11):e78496.
RP1
20301590 Retinitis Pigmentosa Overview Gene Reviews
RPE65
16123401 Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
RPGRIP1
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
SAG
28794130 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
SCAPER
23701314 Genes and mutations causing retinitis pigmentosa. 24670872 SLC7A14 linked to autosomal recessive retinitis pigmentosa.
SLC7A14
20301590 Retinitis Pigmentosa Overview Gene Reviews
SPATA7
26494905 Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
TRNT1
20301590 Retinitis Pigmentosa Overview Gene Reviews
TTC8
9485073 Ataxia with isolated vitamin E deficiency and retinitis pigmentosa.
TTPA
24375934 A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
TUB
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
TULP1
24154662 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
USH1C
24265693 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
USH2A
27596865 Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
WDR19
25882705 Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
ZNF408
20797688 A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. 20301590 Retinitis Pigmentosa Overview Gene Reviews
ZNF513