Retina International Scientific Newsletter

Retina International		Scientific Newsletter
Contact the Editor	DATABASES Disease Database	Recent update from: 15.12.2011 This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Laboratory of Molecular Ophthalmology Department of Opthalmology Justus-Liebig-University, Giessen, Germany Head: Prof. Dr. med. Birgit Lorenz This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.
Genes and loci reported throughout the years - annual listing	Genes and loci reported throughout the years - compiled listing
Chromosome	Albinism	Bardet Biedl Syndrome	Colour Vision Defects	Cone + Cone Rod Dystrophies	Congenital Stationary Night Blindness	Incontinentia Pigmenti	Leber`s Congenital Amaurosis and other Early Onset Severe Retinal Dystrophies	Other Diseases
Last update	26.02.04	09.05.07	10.03.04	14.03.10	14.03.10	11.03.04	14.03.10	10.03.04
1	CHS1, q42.1-2, LYST		ACHM4, p13, GNAT2	CRD, p21-13, ABCR CRD, q12-24 CORD8, q12-24 CORD10, q22, SEMA4A			LCA9, p36 LCA2, p31, RPE65 LCA8, q31-32.1, CRB1 LCA12, q32, RD3
2		BBS5, q31	ACHM2, p11-q12, CNGA3		Oguchi, q37, SAG		LCA19, q37.1, KCNJ13
3	HPS3, q24, HPS3	BBS3, p13-12, ARL6			CSNB Nougaret type, p22, GNAT1 CSNB RHO-type, q21-24, RHO
4		BBS7, q27, BBS2L1 BBS12, q27, FLJ35630			CSNB3, p16.3, PDE6B		LCA, q31.2, LRAT	ABL, q22-24, MTP
5	OCA4, p13, MATP HPS2, q13, ADTB3				CSNB1B, adCSNB, q35, GRM6
6	HPS7, p22.3 DTNBP1 OAR, q13-15			CRD, p21.1, GUCA1A COD/CORD, p21.1-12.2 CORD7, q13-15, RIM1 RCD1, q25-26			LCA5, q14, C6ORF152
7		BBS9, p14, PTHB1	Tritanopia, q31.3-32, BCP
8			ACHM3, q21.1-22.1, CNGB3	CORD9, p11-q11, ADAM9			LCA11, q31.3, IMPDH1
9	OCA3, p23, TYRP1	BBS11, q33.1, TRIM32 MORM, q34		COD, p24, KCNV2		Hypomelanosis of Ito, q33-ter
10	HPS1, q23, ep HPS6, q24-32, ru			CORD15, q23.1-23.2, PCDH21 COD4, q24, PDE6C				GA, q26, OAT
11	HPS5, p15-13, ru2 OCA1, q14.3, Tyr	BBS1, q13, BBS2L2			CSNB2B, q13.1, CABP4		LCA14, q13, CABP4
12		BBS10, q, FLJ23560/C12orf58		CRD, p13.3, CACNA2D4			LCA10, q21.3, CEP290
13					Oguchi disease, q34, GRK1
14		BBS8, q32.1, TTC8	ACHM1,	CRD, q11, RPGRIP			EORD. 14q21-22, OTX2 LCA6, q11, RPGRIP LCA13, q23.3, RDH12 LCA3. q31.3, SPATA7
15	HPS9, p22.1, PLDN OCA2, OA3, q11.2-12, P-gene GS, q21, RAB27A	BBS4, q22.3-23, BBS4			arCSNB, 15q13-14, SLC24A1 CSNB1C, 15q13-14, TRPM1	Hypomelanosis of Ito, q11-13
16	OCA5, q24.3, MC1R	BBS2, q13, BBS2
17				ADCD, p13 CORD5, p13-12, PITPNM3 CORD6, p13-12, GUCY2D CRD, q CORD4, q CORD2, q11.2, AIPL1 CRD, q11.2, HRG4			LCA1, p13, GUCY2D LCA4, p13.1, AIPL1
18				CORD1, q21.1-21.3
19				CORD2, q13.3, CRX			LCA7, q13.3, CRX
20		BBS6, p12, MKKS
21
22	HPS4, q11.2-12.2, le
X	OA1, p22.3-22.2, OA1 ADFN, q26.3-27.1		Deuteranopia, q28, OPNLW, OPNMW Protanopia, q28, OPNLW, OPBMW BCM, q28, OPNMW, OPNLW	CORDX1 (RP15), p22.13-22.11 COD1, p11.4, RPGR COD, p11.4 - q13.1 CORDX3, p11.23, CACANA1F XLPCD2, q27 COD2, q28, OPNMW, OPNLW	CSNB2, AIED (OA2) , p11.23, CACNA1F CSNB1, p11.3, NYX	Hypomelanosis of Ito, p11 IP1, p11.2, IP2, q28,		CHM, q21.2, REP1
mt
Remarks		Triallelic Inheritance
Summary	19 Loci 17 Genes id.	12 Loci 11 Genes id.	8 Loci 7 Genes id.	29 Loci 19 Genes id.	131 Loci 13 Genes id.	5 Loci 0 Genes id.	19 Loci 18 Genes id.	3 Loci 3 Genes id.
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Chromosome	Neuronal Ceroid Lipofuscinosis	Optic Atrophy	Retinal and Macular Dystrophies	Retinitis Pigmentosa	Syndromes	Usher Syndrome	Vitreoretinopathies	Age-related Macular Dystrophies
Last update	26.02.04	14.03.10	30.11.06	09.05.2010	30.11.06	14.03.10	14.03.10	14.03.10
1	CLN1, CLN4, p32, PPT		BFR, p36-p34, PLA2G5 FFM, STGD1, p22-21, ABCR Rod/Cone Dystrophy, pseudo dominant, p21-13	ARRP, p36.11, DHDDS RP32, p21.2-13.3 RP19, p21-13, ABCR RP18, q13-21, HPRP3 RP35, q22, SEMA4A RP20, q31, RPE65 RP12, RPCLD, q31-32.1, CRB1 RP39, q41, USH2A	SLSN4, p36, NPHP4 STL2, p21.1, COL1A1 CRD+AI, q11, CNNM4 AXPC1, q31-32 SLSN7, q34-44, SDCCAG8	USH2A, q41, USH2A		ARMD2, p22-21, ABCR ARMD1, q24-25, HMCN1 ARMD4, q32, CFH
2			MLVT, DHRD, p16, EFEMP1	ARRP, p22.2-24.1, C2ORF71 ARRP, p22.3-24.1, ZNF513 RP28, p15-11, FAM161A RP33, q11.2, SNRNP200, ASCC3L1 RP38, q14, MERTK RP26, q31.2-32.3, CERKL RP47, q37, SAG	ALMS, p13, ALMS1 CRD + Ameliogenesis, q11, CNNM4 SLSN1, JBTS4, q13, NPHP1 JBTS11, q33, TMEM237		SVD, q37, KCNJ13
3		OPA1, q28, OPA1	RPA, q21-24, RHO	RP5, q RP56, q12.2-12.3, IMPG2 ARRP, q21-24, RHO RP4, q21-24, RHO	ADCAII ( SCA7), p21.1-12, SCA7 HERNS (CRV, HRV), q21.1-3, TREX1 SLSN5, q21.1, IQCB1 SLSN3, q22, NPHP3	USH2B, p24.2-23, SLC4A7 USH3, q21-25, Clarin-1
4			STGD4 MCDR2 , p16, PROM1 BCD, q35.2, CYP4V2	RP41, p16, PROM1 RP40, p16.3, PDE6B RP49, p12-cen, CNGA1 RP29, q32-34,	DIDMOAD, p16, WFS1 JBTS9, MKS6, p15.3, CC2D2A WFS2, q22 - q24, CISD2			ARMD, q35.1, TLR3
5			MCDR3, p13.1-15.33, BSMD, q21.2-33.2,	RP43, q31.2-34, PDE6A		USH2C, q14.3-21.3, VLGR1	WGN1, q13-14, VCAN
6			RPA, Retinal pattern dystrophy, p12, RDS/Peripherin BCAMD, p12.3-q16, IMPG1 PBCRA, q11-16.2, adRD,p21.1, GUCA1B adMD, q14, ELOVL4 STGD3, q14, ELOVL4 Dominant drusen with macular dystrophy, q14 autosomal dominant Stargardt-like Macular Dystrophy, q16, MCDR1, q16,	RP14, p21.3, TULP1 RP7, digenic RP, p12, PRPH2 RP25, q12.4, EYS	North Carolina Macular Dystrophy segregating with progressive sensorineural deafness, 6, STL3, q13, COL9A1 Refsum Disease, adult 2, q22-24, PEX7 JBTS3, q23.3, AHI1			ARMD, p12.3, C2 ARMD, p12.3, CFB
7			DCMD, p21-15	RP42, p15.3, KLHL7 RP9, p14, PIM1K RP10, q31.3, IMPDH	Refsum Disease, q21-22, PEX1		DFEVR, q31, TSPAN12
8		OPA6 ( ROA), q21-22	OMD, q24, RP1L1 VMD1, q24	R0P1, q12-13, RP1	Refsum Disease, infantile, q21.1, PXMP3 Ataxia and Retinitis Pigmentosa with isolated Vitamin E Deficiency, q13.1-13.3, TTPA JBTS6, q34.3, MKS3
9				RP31, p22-13, TOPORS RP21, q34-ter	JBTS1, q34.3, INPP5E SLSN, q31, NPHP2	USH2D, q32-34, Whirlin		ARMD10, q32-33, TLR4
10			Fundus Xerophthalmicus, q24, RBP4	ARRP, q11, PCDH21 ARRP, q11, RBP3 ARRD, q23.1-23.2, PCDH21 ADRP, ARRP, q23, RGR	Refsum Disease, adult, pter-11.2, PAHX Refsum Disease, adult with increased pipecolicacidemia, pter-11.2,	USH1F, q11.2-21, PCDH15 USH1D, q21-22, CDH23 USH1D/F digenic, q11.2-22, CDH23, PCDH15		ARMD5, q11, ERCC6 ARMD7, q26, HTRA1 ARMD8, q26, LOC387715
11	CLN2, p15.5, CLN2	OPA7, q14.1-21, TMEM126A	AA, p15, TEAD1 VMD2, ARB, ADVIRC , q12-13.1, BEST1 L-ORD, LOMD , q23.3, CTRP5	RP50, q12-13.1, BEST1 ADRP, RP digenic, q13, ROM1	JBTS2, p12-q13.3 Mirophthalmia with posterior cataract, q23	USH1C, p14.3, USH1C USH1B, q13.5, MyoVIIa	EVR3, p12-13 VRNI, q13 EVR1, q13-23, FZD4 EVR4, q13.2, LRP5
12			FA, q13-14, RDH5		STL, q13.11-13.13, COL2A1 JBTS5, SLSN6, q31, CEP290 Autosomal Dominant Rhegmatogenous Retinal Detachment, q13.11-13.13, COL2A1		WGN2, q13.11-13.2, COL2A1
13	CLN5, q21.1-32, CLN5		STGD2, q34	ARRP, q34, GRK1
14			MCDR4, q	RP27, ADRP/CMO, RP,si, q11, NRL RP16, q11-13.1 RP53, q23.3, RDH12 RP51, q32.1, TTC8		USH1A, q32,		ARMD3, q32.12, FBLN5
15	CLN6, q21-23, CLN6		ESCS, q23, NR2E3 NFRCD, RPA, BRD, q26, RLBP1	ARRP, q26, RLBP1	Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration, q24	USH1H, q22-23
16	CLN3 (JCNL), p12.1, CLN3	OPA8, q21-22	PXE, p13.1, ABCC6 HJMD, q22.1, CDH3	RP22, p12.3-12.1 ARRP, p13, CNGB1	FHASD, q23.2-24.2 JBTS7, q31, RPGRIP1L
17			CACD, p13-12 SPD, q24, RGS9	RP13, p13.3, PRPC8 RP36, q22, C2Y RP17, q23, CA4 RP30, q25, FSCN2		USH1G, q24-25, SANS
18		OPA4, q12.2-3
19		OPA3, q13.2-3, OPA3	MCDR5, q13.31-32 SPD, q24, R9AP	ADRP, q13.3, CRX RP11, q13.4, PRKCG RP11a, q13.4, PRPF31				ARMD6, p13.3, QRX ARMD9, p13.3-2, C3
20				ARRP, p13, IDH3B ADRP, q13.33, PRPF6	AGS, p12, JAG1
21						USH1E, q21,
22		OPA5, q12.3	SFD, q12-13.2, TIMP3
X		OPA2, p11.4-11.21	CORD3 (RP15) , p22.13-22.11, RPGR PRD, p11.3-11.23, RS, p22.2, XLRS1	RP23, p22, RP3, p21.1, RPGR RP6, p21.3-21.2, RP2, p11.3-11.22, RP2 RP24, q26.2-27.2 RP34, q28	ND, p11.4, NDP OCRL, q25-26, OCRL1 JBTS10, p22.3-2, CXORF5 MTS, p22.1, TIMM8A		XEFVR, p11.3-11.23, NDP
mt		LHON, mitochondrial			KS, mitochondrial NARP syndrome, mitochondrial, ATPase 6 Pigmentary Retinopathy and Sensorineural Deafness, mitochondrial, MTTH Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness), mitochondrial, mitochondrial 11778	Sensorineural Deafness with RP, mitochondrial, MTTS2
Remarks						digenic inheritance
Summary	6 Loci 6 Genes id.	10 Loci 4 Gene id.	48 Loci 31 Genes id.	67 Loci 57 Genes id.	49 Loci 42 Genes id.	15 Loci 13 Genes id.	911 Loci 8 Genes id.	13 Loci 13 Genes id.

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Retina

International

Scientific

Newsletter

Contact the Editor

DATABASES

Disease Database

Recent update from: 15.12.2011

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Genes and loci reported throughout the years -
annual listing