×
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
30967659 2019
×
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 23469
Gene Symbol: PHF3
PHF3
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 6247
Gene Symbol: RS1
RS1
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
25307992 2015
×
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
25412400 2015
×
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
23946133 2013
×
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
22938382 2012
×
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
21882291 2011
×
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
20398886 2010
×
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
20673862 2010
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
19479962 2009
×
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
17033958 2006
×
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
15258582 2004
×
Entrez Id: 6102
Gene Symbol: RP2
RP2
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
12657579 2003
×
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
12118255 2002
×
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
Retinal Dystrophies
0.100
GeneticVariation
CLINVAR
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
12118255 2002
×
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
Genetic basis of total colourblindness among the Pingelapese islanders.
10888875 2000