Description
This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.

18 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Eleanor Williams (Genomics England)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Anna Ritchie (Victorian Clinical Genetics Services)

  • Achchuthan Shanmugasundram (Genomics England)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

84 Entities

84 reviewed, 59 green

List Entity Reviews Mode of inheritance Details
84 Entitiess
Green Green List (high evidence)
AIPL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 4, MIM# 604393
Tags
Green Green List (high evidence)
AP3B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 2, MIM# 608233
  • MONDO:0011997
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
AP3D1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Hermansky-Pudlak syndrome 10, MIM# 617050
  • Oculocutaneous albinism
  • Severe neutropaenia
  • Recurrent infections
  • Seizures
  • Hearing loss
  • Neurodevelopmental delay
Tags
Green Green List (high evidence)
ATF6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Achromatopsia 7 MIM#616517
Tags
Green Green List (high evidence)
BLOC1S3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
Tags
Green Green List (high evidence)
BLOC1S5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • NHS Genomic Medicine Service
Phenotypes
  • Hermansky-Pudlak syndrome, MONDO:0019312
Tags
Green Green List (high evidence)
BLOC1S6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 9, MIM# 614171
Tags
Green Green List (high evidence)
CABP4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427
Tags
Green Green List (high evidence)
CACNA1A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Developemental and epileptic encephalopathy 42, MIM# 617106
  • Episodic ataxia, type 2, MIM# 108500
  • Migraine, familial hemiplegic, 1, MIM# 141500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500
  • Spinocerebellar ataxia 6, MIM# 183086
Tags
Green Green List (high evidence)
CACNA1F
2 reviews
2 green
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
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Royal Melbourne Hospital
Phenotypes
  • Aland Island eye disease, MIM# 300600
  • Cone-rod dystrophy, X-linked, 3, MIM# 300476
Tags
Green Green List (high evidence)
CASK
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Mental retardation, with or without nystagmus, MIM# 300422
Tags
Green Green List (high evidence)
CEP290
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 10, MIM# 611755
Tags
Green Green List (high evidence)
CNGA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Achromatopsia 2 MIM#216900
Tags
Green Green List (high evidence)
CNGB3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Achromatopsia 3 MIM#262300
Tags
Green Green List (high evidence)
CRB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 8, MIM# 613835
Tags
Green Green List (high evidence)
CRX
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 7, MIM# 613829
Tags
Green Green List (high evidence)
DCT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • NHS Genomic Medicine Service
Phenotypes
  • Oculocutaneous albinism, type VIII, MIM# 619165
Tags
Green Green List (high evidence)
DOHH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Tags
Green Green List (high evidence)
DTNBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 7, MIM# 614076
  • MONDO:0013559
Tags
Green Green List (high evidence)
FRMD7
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Nystagmus 1, congenital, X-linked, MIM# 310700
  • Nystagmus, infantile periodic alternating, X-linked, MIM# 310700
Tags
Green Green List (high evidence)
GNAT2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Achromatopsia 4 MIM#613856
Tags
Green Green List (high evidence)
GPR143
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
  • MONDO:0021019
  • Nystagmus 6, congenital, X-linked, MIM# 300814
Tags
Green Green List (high evidence)
GPR179
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Tags
Green Green List (high evidence)
GRID2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
Tags
Green Green List (high evidence)
GRM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Tags
Green Green List (high evidence)
GUCY2D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 1, MIM# 204000
Tags
Green Green List (high evidence)
HPS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 1, MIM# 203300
  • MONDO:0008748
Tags
Green Green List (high evidence)
HPS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 3, MIM# 614072
  • MONDO:0013555
Tags
Green Green List (high evidence)
HPS4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 4, MIM# 614073
  • MONDO:0013556
Tags
Green Green List (high evidence)
HPS5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Hermansky-Pudlak syndrome 5 (MIM#614074)
Tags
Green Green List (high evidence)
HPS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 6, MIM# 614075
  • MONDO:0013558
Tags
Green Green List (high evidence)
KCNJ13
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 16 MIM#614186
Tags
Green Green List (high evidence)
LAMA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Poretti-Boltshauser syndrome, OMIM:615960
Tags
Green Green List (high evidence)
LRMDA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type VII, MIM# 615179
  • MONDO:0014070
Tags
Green Green List (high evidence)
LYST
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Chediak-Higashi syndrome, MIM# 214500
Tags
Green Green List (high evidence)
MTSS1L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Tags
Green Green List (high evidence)
NMNAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 9 MIM#608553
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260
Tags
Green Green List (high evidence)
NYX
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Tags
Green Green List (high evidence)
OCA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, brown oculocutaneous, MIM# 203200
  • Albinism, oculocutaneous, type II, MIM# 203200
Tags
Green Green List (high evidence)
PAX6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Anterior segment dysgenesis 5, multiple subtypes 604229
  • Optic nerve hypoplasia 165550 AD
  • Foveal hypoplasia 1 136520 AD
Tags
Green Green List (high evidence)
PDE6C
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cone dystrophy 4, MIM# 613093
  • Achromatopsia-5
Tags
Green Green List (high evidence)
PDE6H
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Achromatopsia 6 MIM#610024
Tags
Green Green List (high evidence)
PRPH2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 18 MIM#608133
Tags
Green Green List (high evidence)
RD3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 12 MIM#610612
Tags
Green Green List (high evidence)
RDH12
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 13, MIM# 612712
Tags
Green Green List (high evidence)
RIMS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
Tags
Green Green List (high evidence)
RPE65
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 2, 204100
Tags
Green Green List (high evidence)
RPGRIP1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 6, MIM# 613826
  • congenital nystagmus
Tags
Green Green List (high evidence)
SACS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Tags
Green Green List (high evidence)
SETX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002
Tags
Green Green List (high evidence)
SLC24A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type VI, MIM# 113750
Tags
Green Green List (high evidence)
SLC38A8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218
  • MONDO:0012216
Tags
Green Green List (high evidence)
SLC45A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type IV, MIM# 606574
  • MONDO:0011683
Tags
Green Green List (high evidence)
SPATA7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 3, MIM# 604232
Tags
Green Green List (high evidence)
TRPM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Tags
Green Green List (high evidence)
TULP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Leber congenital amaurosis 15, MIM# 613843
Tags
Green Green List (high evidence)
TYR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type IA, MIM# 203100
  • Albinism, oculocutaneous, type IB, MIM# 606952
Tags
Green Green List (high evidence)
TYRP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type III, MIM# 203290
  • MONDO:0008747
Tags
Green Green List (high evidence)
USP45
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Leber congenital amaurosis
  • retinal dystrophy
Tags
Amber Amber List (moderate evidence)
AHR
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
  • NHS Genomic Medicine Service
Phenotypes
  • Foveal hypoplasia without albinism
  • Infantile nystagmus
Tags
Amber Amber List (moderate evidence)
IMPDH1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Leber congenital amaurosis 11, MIM#613837
Tags
Amber Amber List (moderate evidence)
LRAT
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Leber congenital amaurosis 14, MIM#613341
Tags
Amber Amber List (moderate evidence)
MANBA
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Nystagmus, autosomal dominant
Tags
Amber Amber List (moderate evidence)
MYO5A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Griscelli syndrome, type 1, MIM# 214450
Tags
Red Red List (low evidence)
DGUOK
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Tags
Red Red List (low evidence)
GDF6
3 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Leber congenital amaurosis 17, MIM# 615360
Tags
Red Red List (low evidence)
GNAI3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Ocular albinism
Tags
Red Red List (low evidence)
GNAT1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 3, IM# 610444
  • Night blindness, congenital stationary, type 1G, MIM# 616389
Tags
Red Red List (low evidence)
GNB3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, type 1H, MIM# 617024
Tags
Red Red List (low evidence)
GRK1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-2, 613411
Tags
Red Red List (low evidence)
ITM2B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Tags
Red Red List (low evidence)
LRIT3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Tags
Red Red List (low evidence)
MITF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Tietz albinism-deafness syndrome 103500
Tags
Red Red List (low evidence)
MLPH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Griscelli syndrome, type 3, MIM# 609227
Tags
Red Red List (low evidence)
PDE6B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2, 163500
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
RAB27A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Griscelli syndrome, type 2 607624 AR
Tags
Red Red List (low evidence)
RDH5
3 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Fundus albipunctatus, MIM# 136880
Tags
Red Red List (low evidence)
RGS9
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Bradyopsia MIM#608415
Tags
Red Red List (low evidence)
RGS9BP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Bradyopsia MIM#608415
Tags
Red Red List (low evidence)
RHO
2 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445
  • Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731
Tags
Red Red List (low evidence)
ROBO1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • nystagmus, congenital, autosomal recessive, MONDO:0009762
Tags
Red Red List (low evidence)
ROM1
3 reviews
1 green 1 red
Other
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 7, digenic form, MIM# 608133
Tags
Red Red List (low evidence)
SAG
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-1, MIM# 258100
Tags
Red Red List (low evidence)
SLC24A1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Tags

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