PanelApp (test)
  1. Panels
  2. Optic Atrophy
Description
This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.
Panel Activity

16 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Natalie Tan (Victorian Clinical Genetics Services)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Rylee Peters (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Suliman Khan (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

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

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

57 Entities

57 reviewed, 38 green

List Entity Reviews Mode of inheritance Details
57 Entitiess
Green Green List (high evidence)
ACO2
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 9, MIM# 616289
  • Infantile cerebellar-retinal degeneration, MIM# 614559
Tags
Green Green List (high evidence)
AFG3L2
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 12, MIM# 618977
Tags
Green Green List (high evidence)
ANTXR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • GAPO syndrome, MIM# 230740
Tags
Green Green List (high evidence)
AP3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Tags
Green Green List (high evidence)
ATAD3A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Harel-Yoon syndrome, MIM#617183
Tags
Green Green List (high evidence)
ATG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, SCAR31, MIM#619422
Tags
Green Green List (high evidence)
BORCS8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), BORCS8-related
Tags
Green Green List (high evidence)
C12orf65
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 7
  • Spastic paraplegia 55, autosomal recessive
Tags
  • new gene name
Green Green List (high evidence)
C19orf12
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive 61504
  • Neurodegeneration with brain iron accumulation 4 614298
Tags
Green Green List (high evidence)
CISD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wolfram syndrome 2, MIM#604928
Tags
Green Green List (high evidence)
DNAJC30
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leber Hereditary Optic Neuropathy, MIM#619382
Tags
Green Green List (high evidence)
DNM1L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Optic atrophy 5 (MIM#610708)
Tags
Green Green List (high evidence)
FDXR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy and optic atrophy, MIM#617717
Tags
Green Green List (high evidence)
HIKESHI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 13, MIM# 616881
Tags
Green Green List (high evidence)
KLC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Tags
  • SV/CNV
Green Green List (high evidence)
LETM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Tags
Green Green List (high evidence)
MECR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 16, MIM# 620629
Tags
Green Green List (high evidence)
MFF
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Tags
Green Green List (high evidence)
MFN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152
Tags
Green Green List (high evidence)
NBAS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Tags
Green Green List (high evidence)
NDUFA12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • isolated optic atrophy
  • MONDO:0003608
Tags
Green Green List (high evidence)
NDUFS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
  • Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569
Tags
Green Green List (high evidence)
NR2F1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Tags
Green Green List (high evidence)
OPA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 1 165500
  • Optic atrophy plus syndrome, MIM# 125250
  • Behr syndrome, MIM# 210000
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR
  • Optic atrophy 3 with cataract (MIM#165300), AD
Tags
Green Green List (high evidence)
PDXK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Axonal polyneuropathy
  • optic atrophy
Tags
Green Green List (high evidence)
PTCD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Intellectual disability
  • optic atrophy
  • Leigh-like syndrome
Tags
Green Green List (high evidence)
RTN4IP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Tags
Green Green List (high evidence)
SLC25A46
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
  • Pontocerebellar hypoplasia, type 1E, MIM# 619303
Tags
Green Green List (high evidence)
SLC44A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood onset degeneration
  • progressive ataxia
  • tremor
  • cognitive decline
  • dysphagia
  • optic atrophy
  • dysarthria
Tags
Green Green List (high evidence)
SLC52A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2
Tags
Green Green List (high evidence)
SPG7
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant optical atrophy
Tags
Green Green List (high evidence)
SSBP1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy with or without extraocular phenotypes
  • Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Tags
Green Green List (high evidence)
TMEM126A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 7, MIM# 612989
  • MONDO:0013069
Tags
Green Green List (high evidence)
UCHL1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 79, autosomal recessive (MIM#615491)
Tags
Green Green List (high evidence)
UFM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, MIM# 617899
Tags
Green Green List (high evidence)
WFS1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wolfram syndrome 1, autosomal recessive, MIM# 222300
  • Wolfram-like syndrome, autosomal dominant, MIM#614296
Tags
Green Green List (high evidence)
ZNHIT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PEHO syndrome, MIM# 260565
Tags
  • founder
Amber Amber List (moderate evidence)
AUH
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type I, MIM# 250950
Tags
Amber Amber List (moderate evidence)
CCDC88A
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • PEHO syndrome-like, MIM#617507
Tags
Amber Amber List (moderate evidence)
MCAT
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Optic atrophy 15, MIM# 620583
Tags
Amber Amber List (moderate evidence)
MIR204
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Tags
Amber Amber List (moderate evidence)
NDUFS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, 618226
Tags
Amber Amber List (moderate evidence)
NDUFS3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Tags
Amber Amber List (moderate evidence)
PDSS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Tags
Amber Amber List (moderate evidence)
PLAA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)
Tags
Amber Amber List (moderate evidence)
POLG
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
  • Progressive external ophthalmoplegia, autosomal recessive 1 258450
Tags
Amber Amber List (moderate evidence)
SNF8
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Tags
Amber Amber List (moderate evidence)
TBCD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Tags
Amber Amber List (moderate evidence)
TIMM50
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type IX (MIM#617698)
Tags
Amber Amber List (moderate evidence)
TIMM8A
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mohr-Tranebjaerg syndrome (MIM#304700)
Tags
Red Red List (low evidence)
MIEF1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Optic atrophy 14 (MIM#620550)
Tags
Red Red List (low evidence)
MTPAP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 4, autosomal recessive 613672
Tags
Red Red List (low evidence)
PBX1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Tags
Red Red List (low evidence)
SLC24A1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive
  • 613830
Tags
Red Red List (low evidence)
UBA5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Tags
Red Red List (low evidence)
YME1L1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Optic atrophy 11 MIM#617302
Tags

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