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  2. Congenital Stationary Night Blindness

Congenital Stationary Night Blindness (Version 0.23)

Level 2: Ophthalmological disorders

Relevant disorders: Congenital stationary night blindness, HP:0007642; Retinal dystrophy, HP:0000556
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel was developed and is maintained by RMH and is a consensus panel used by VCGS.

Consider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.
Panel Activity

6 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Bryony Thompson (Royal Melbourne Hospital)

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

20 Entities

13 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green List (high evidence)
CABP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Tags
Green List (high evidence)
CACNA1F
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 dystropy, X-linked, 3, 300476
  • Aland Island eye disease, 300600
  • Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Tags
Green List (high evidence)
CACNA2D4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal cone dystrophy 4, 610478
  • Congenital Stationary Night Blindness
Tags
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
  • Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Tags
Green List (high evidence)
GNAT1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
Tags
Green List (high evidence)
GNB3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, type 1H, MIM# 617024
Tags
Green List (high evidence)
GPR179
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Tags
Green List (high evidence)
GRK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-2, 613411
Tags
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 List (high evidence)
LRIT3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Tags
Green List (high evidence)
NYX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Tags
Green List (high evidence)
PDE6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2, 163500
  • Retinitis pigmentosa
Tags
Green List (high evidence)
RDH5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Fundus albipunctatus (MIM#136880)
  • Congenital Stationary Night Blindness
Tags
Green List (high evidence)
RHO
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis punctata albescens
  • Retinitis pigmentosa
  • Night blindness, congenital stationary autosomal dominant 1
Tags
Green List (high evidence)
RIMS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • nystagmus
  • retinal dysfunction
  • autism
  • night blindness
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Tags
Green List (high evidence)
RPE65
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 20
  • Leber congenital amaurosis 2, 204100
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 2
Tags
Green List (high evidence)
SAG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-1, MIM# 258100
Tags
Green List (high evidence)
SLC24A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Tags
Green List (high evidence)
TRPM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Tags
Red List (low evidence)
ITM2B
1 review
1 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

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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