Retinitis pigmentosa_Autosomal Recessive/X-linked (Version 0.155)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 114 Entitiess
Green Green List (high evidence)	ABCA4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Macular Degeneration (Dominant) Stargardt disease 1, 248200 Macular degeneration, age-related, 2, 153800 Achromatopsia, Cone, and Cone-rod Dystrophy Retinal dystrophy, early-onset severe, 248200 Stargardt Disease, Recessive Retinitis pigmentosa 19, 601718 Cone-rod dystrophy 3, 604116 Macular Dystrophy/Degeneration/Stargardt Disease Fundus flavimaculatus, 248200 Tags deep intronic
Green Green List (high evidence)	ABHD12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes nonsyndromic retinitis pigmentosa Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Tags
Green Green List (high evidence)	AGBL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 75 617023 Tags
Green Green List (high evidence)	AHI1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes nonsyndromic retinitis pigmentosa Joubert syndrome 17 Tags
Green Green List (high evidence)	AIPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes AIPL1-related retinopathy (MONDO:0100438) Tags
Green Green List (high evidence)	AMACR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green Green List (high evidence)	ARHGEF18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 78 617433 Tags
Green Green List (high evidence)	ARL2BP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa with or without situs inversus, 615434 Tags
Green Green List (high evidence)	BBS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa Tags
Green Green List (high evidence)	BBS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Tags
Green Green List (high evidence)	BEST1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1 Maculopathy, bull's-eye Best Vitelliform Macular Dystrophy Best macular dystrophy, 153700 Vitreoretinochoroidopathy, 193220 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Bestrophinopathy, 611809 Vitelliform macular dystrophy, adult-onset, 608161 Tags
Green Green List (high evidence)	C2orf71	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 54 Tags new gene name
Green Green List (high evidence)	C8orf37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Retinitis pigmentosa 64, 614500 Tags
Green Green List (high evidence)	CACNA1F	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes X-linked retinitis pigmentosa Tags
Green Green List (high evidence)	CDHR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone-Rod Dystrophy, Recessive Retinitis pigmentosa 65 Cone-rod dystrophy 15, 613660 Tags
Green Green List (high evidence)	CEP290	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Senior-Loken syndrome 6, 610189 Meckel syndrome 4, 611134 Leber congenital amaurosis 10, 611755 Joubert syndrome 5, 610188 Bardet-Biedl syndrome 14, 209900 Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	CERKL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 26, MIM# 608380 Tags
Green Green List (high evidence)	CFAP20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa (MONDO:0019200), CFAP20-related Tags
Green Green List (high evidence)	CHM	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) Tags
Green Green List (high evidence)	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa Juvenile neuronal ceroid lipofuscinosis Tags
Green Green List (high evidence)	CLRN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 61, 614180 Tags
Green Green List (high evidence)	CNGA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 49, 613756 Tags
Green Green List (high evidence)	CNGB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 45, MIM#613767 Tags
Green Green List (high evidence)	COQ8B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa MONDO:0019200 Tags
Green Green List (high evidence)	CRB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pigmented paravenous chorioretinal atrophy, 172870 Leber congenital amaurosis 8, 613835 Retinitis pigmentosa-12, autosomal recessive, 600105 Tags
Green Green List (high evidence)	CWC27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 Tags
Green Green List (high evidence)	CYP4V2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa Bietti crystalline corneoretinal dystrophy, 210370 Tags
Green Green List (high evidence)	DHDDS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes non-syndromic retinitis pigmentosa Tags
Green Green List (high evidence)	EYS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 25, 602772 Tags
Green Green List (high evidence)	FAM161A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 28, 606068 Retinitis pigmentosa 28 MONDO:0011630 Tags
Green Green List (high evidence)	FAM57B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cone-rod dystrophy 22, MIM# 619531 Maculopathy Tags new gene name
Green Green List (high evidence)	FLVCR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Tags
Green Green List (high evidence)	GUCY2D	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone-rod dystrophy 6 (AD) Leber congenital amaurosis 1, 204000 Retinitis pigmentosa Tags
Green Green List (high evidence)	HGSNAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 73 Tags
Green Green List (high evidence)	IDH3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa, MIM#619007 Leber congenital amaurosis Tags
Green Green List (high evidence)	IDH3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 46, 612572 Tags
Green Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 80, MIM# 617781 Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 71, MIM#616394 Tags
Green Green List (high evidence)	IMPG2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 56, 613581 Maculopathy, IMPG2 - related Retinitis pigmentosa Tags
Green Green List (high evidence)	KCNJ13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leber congenital amaurosis 16 MIM#614186 Tags
Green Green List (high evidence)	KIAA1549	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 86 Tags
Green Green List (high evidence)	KIZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 69, MIM# 615780 Tags
Green Green List (high evidence)	LCA5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 5, 604537 Tags
Green Green List (high evidence)	LRAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber Congenital Amaurosis Leber congenital amaurosis 14 Retinitis pigmentosa, juvenile Retinal dystrophy, early-onset severe, 613341 Tags
Green Green List (high evidence)	MAK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 62, 614181 Tags
Green Green List (high evidence)	MERTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 38, MIM# 613862 Tags
Green Green List (high evidence)	MFRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen Tags
Green Green List (high evidence)	NEUROD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa Retinopathy Permanent neonatal diabetes Tags
Green Green List (high evidence)	NMNAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leber congenital amaurosis 9 MIM#608553 Tags
Green Green List (high evidence)	NR2E3	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Enhanced S - cone syndrome (AR) Retinitis pigmentosa 37 (AD and AR) Tags
Green Green List (high evidence)	NRL	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 27 (AD) Retinal degeneration, autosomal recessive, clumped pigment type (AR) Tags
Green Green List (high evidence)	OAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Gyrate atrophy of choroid and retina Tags
Green Green List (high evidence)	OFD1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 23, 300424 Joubert syndrome 10, 300804 Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Tags
Green Green List (high evidence)	PDE6A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 43, 613810 Tags
Green Green List (high evidence)	PDE6B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 40 Night blindness, congenital stationary, autosomal dominant 2 Tags
Green Green List (high evidence)	PLA2G5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes [Fleck retina, familial benign], MIM# 228980 Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 76, MIM#617123 Tags
Green Green List (high evidence)	PQLC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, PQLC2-related Tags new gene name
Green Green List (high evidence)	PRCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 36, MIM# 610599 Tags
Green Green List (high evidence)	PROM1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Stargardt disease 4, 603786 Macular dystrophy, retinal, 2, 608051 Retinitis pigmentosa 41, 612095 Cone-rod dystrophy 12, 612657 Tags
Green Green List (high evidence)	RAX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa-95 (RP95), MIM#620102 Tags
Green Green List (high evidence)	RBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 66, 615233 Tags
Green Green List (high evidence)	RBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147 Tags
Green Green List (high evidence)	RCBTB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Retinal dystrophy with or without extraocular anomalies MIM#617175 Tags
Green Green List (high evidence)	RD3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 12, 610612 Tags
Green Green List (high evidence)	RDH12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 13, 612712 Retinitis Pigmentosa, Recessive Tags
Green Green List (high evidence)	REEP6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 77 Tags
Green Green List (high evidence)	RHO	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 Retinitis punctata albescens Congenital Stationary Night Blindness Tags
Green Green List (high evidence)	RLBP1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis punctata albescens Newfoundland rod - cone dystrophy Fundus albipunctatus, 136880 Fundus albipunctatus Bothnia retinal dystrophy Tags
Green Green List (high evidence)	RP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 1, 180100 Tags
Green Green List (high evidence)	RP1L1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes retinitis pigmentosa Occult macular dystrophy, 613587 Tags
Green Green List (high evidence)	RP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis Pigmentosa, X-linked Retinitis pigmentosa 2, 312600 Tags
Green Green List (high evidence)	RPE65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 20 Leber congenital amaurosis 2, 204100 Tags
Green Green List (high evidence)	RPGR	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cone-rod dystrophy, X-linked, 1, 304020 Macular degeneration, X-linked atrophic, 300834 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 Retinitis pigmentosa 3, 300029 Tags
Green Green List (high evidence)	RPGRIP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194 Tags
Green Green List (high evidence)	SLC37A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, SLC37A3-related Tags
Green Green List (high evidence)	SPATA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber Congenital Amaurosis Retinitis pigmentosa, juvenile, autosomal recessive, 604232 Leber congenital amaurosis 3 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, TMEM216-related Tags UTR
Green Green List (high evidence)	TRNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa and erythrocytic microcytosis Tags
Green Green List (high evidence)	TTC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 51, 613464 Bardet-Biedl syndrome 8, 209900 Tags
Green Green List (high evidence)	TULP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 15, 613843 Retinitis pigmentosa 14, 600132 Tags
Green Green List (high evidence)	USH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 39, 613809 Usher syndrome, type 2A, 276901 Tags
Green Green List (high evidence)	USP45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lebers congenital amaurosis Tags
Green Green List (high evidence)	ZNF408	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 72, MIM# 616469 Tags
Amber Amber List (moderate evidence)	ADIPOR1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes syndromic retinitis pigmentosa non-syndromic autosomal dominant retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	AHR	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Retinitis pigmentosa 85 Tags
Amber Amber List (moderate evidence)	ARL6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 55, 613575 Bardet-Biedl syndrome 3, 209900 Tags
Amber Amber List (moderate evidence)	CEP162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa MONDO:0019200, CEP162-related Tags
Amber Amber List (moderate evidence)	CLCC1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 32, MIM# 609913 Tags
Amber Amber List (moderate evidence)	CRB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	DHX38	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 84, MIM#618220 Tags
Amber Amber List (moderate evidence)	EMC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Retinitis pigmentosa Cerebellar atrophy, visual impairment, and psychomotor retardation Tags
Amber Amber List (moderate evidence)	GDF6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leber congenital amaurosis 17 MIM#615360 Tags
Amber Amber List (moderate evidence)	IMPG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa, MONDO:0019200 Retinitis pigmentosa 91, MIM# 153870 Tags
Amber Amber List (moderate evidence)	MVK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mevalonic aciduria Hyper-IgD syndrome Tags
Amber Amber List (moderate evidence)	NEK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Retinitis pigmentosa 67, 615565 Tags
Amber Amber List (moderate evidence)	PDE6G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 57, MIM#613582 Tags
Amber Amber List (moderate evidence)	SAG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 47, MIM# 613758 Tags founder
Amber Amber List (moderate evidence)	SEMA4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cone-rod dystrophy 10, 610283 Retinitis pigmentosa 35, 610282 Tags
Amber Amber List (moderate evidence)	SLC4A7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, SLC4A7-related Tags
Amber Amber List (moderate evidence)	ZNF513	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 58, 613617 Tags
Red Red List (low evidence)	ADGRA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Retinitis pigmentosa, MONDO:0019200, ADGRA3-related Tags
Red Red List (low evidence)	CCT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Leber's congenital amaurosis Tags
Red Red List (low evidence)	HKDC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Retinitis pigmentosa 92, MIM# 619614 Tags
Red Red List (low evidence)	PMPCA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 2 Tags
Red Red List (low evidence)	RGR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 44, 613769 Tags disputed
Red Red List (low evidence)	SAMD11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Autosomal recessive retinitis pigmentosa Tags
Red Red List (low evidence)	SCAPER	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Tags
Red Red List (low evidence)	SCLT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonsyndromic retinitis pigmentosa Tags
Red Red List (low evidence)	SLC39A12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Retinitis pigmentosa, MONDO:0019200, SLC39A12-related Tags
Red Red List (low evidence)	SLC7A14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 68, 615725 (3) Tags disputed
Red Red List (low evidence)	WDR34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Retinitis pigmentosa Tags

Retinitis pigmentosa_Autosomal Recessive/X-linked (Version 0.155)

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