PanelApp (test)
  1. Panels
  2. Congenital ophthalmoplegia
Description
This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.

In addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.
Panel Activity

5 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Shannon LeBlanc (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

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

52 Entities

52 reviewed, 48 green

List Entity Reviews Mode of inheritance Details
52 Entitiess
Green Green List (high evidence)
BIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Centronuclear myopathy 2, MIM 255200
Tags
Green Green List (high evidence)
C1QBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, MIM# 617713
Tags
Green Green List (high evidence)
CHAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, MIM# 254210
Tags
  • treatable
Green Green List (high evidence)
CHN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Duane retraction syndrome 2, 604356
Tags
Green Green List (high evidence)
CHRNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462
Tags
  • treatable
Green Green List (high evidence)
CHRNB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313
Tags
Green Green List (high evidence)
CHRND
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322
Tags
  • treatable
Green Green List (high evidence)
CHRNE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, MIM# 616324
Tags
  • treatable
Green Green List (high evidence)
COL25A1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 5, MIM# 616219
Tags
Green Green List (high evidence)
COLQ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 5, MIM# 603034
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
DGUOK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM 251880
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM 617070
  • portal hypertension, non cirrhotic OMIM 617068
Tags
Green Green List (high evidence)
GBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gaucher disease, type II, MIM# 230900
Tags
Green Green List (high evidence)
HNRNPA2B1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
Tags
Green Green List (high evidence)
HOXA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome
  • Bosley-Salih-Alorainy syndrome - 601536
Tags
Green Green List (high evidence)
HPDL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026
Tags
Green Green List (high evidence)
KIF21A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700
Tags
Green Green List (high evidence)
LMOD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 10, MIM# 616165
Tags
Green Green List (high evidence)
MFF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Tags
Green Green List (high evidence)
MGME1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 11, MIM#615084
Tags
Green Green List (high evidence)
MTM1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myotubular myopathy, X-linked, MIM# 310400
Tags
Green Green List (high evidence)
MUSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325
Tags
Green Green List (high evidence)
MYF5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855
Tags
Green Green List (high evidence)
MYH2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Proximal myopathy and ophthalmoplegia, MIM# 605637
Tags
Green Green List (high evidence)
MYMK
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Carey-Fineman-Ziter syndrome, MIM 254940
Tags
  • founder
Green Green List (high evidence)
NDUFS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Tags
Green Green List (high evidence)
NDUFV1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 4, MIM# 618225
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Niemann-Pick disease, type C, 257220
Tags
Green Green List (high evidence)
OPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Optic atrophy plus syndrome, MIM# 125250
Tags
Green Green List (high evidence)
PDHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111
Tags
Green Green List (high evidence)
PHOX2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2, MIM# 602078
Tags
Green Green List (high evidence)
PIEZO2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal, type 5, MIM# 108145
  • Arthrogryposis, distal, type 3, MIM# 114300
Tags
Green Green List (high evidence)
PLXND1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Möbius syndrome
Tags
Green Green List (high evidence)
POLG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459
  • Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Tags
Green Green List (high evidence)
POLG2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131
Tags
Green Green List (high evidence)
REV3L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Möbius syndrome
Tags
Green Green List (high evidence)
ROBO3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)
Tags
Green Green List (high evidence)
RRM2B
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) - 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) - 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 - 613077
Tags
Green Green List (high evidence)
RYR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Minicore myopathy with external ophthalmoplegia 255320
Tags
Green Green List (high evidence)
SALL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Duane-radial ray syndrome, 607323
Tags
Green Green List (high evidence)
SLC18A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239
Tags
Green Green List (high evidence)
SLC19A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Tags
Green Green List (high evidence)
SLC9A6
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Tags
Green Green List (high evidence)
SUCLA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073
Tags
Green Green List (high evidence)
SURF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 1 OMIM 220110
Tags
Green Green List (high evidence)
TUBA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital fibrosis of the extraocular muscles, AD
Tags
Green Green List (high evidence)
TUBB3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 3A 600638
  • CFEOM3A
Tags
Green Green List (high evidence)
TWNK
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
  • Perrault syndrome 5 616138
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Tags
Green Green List (high evidence)
TYMP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
Tags
Amber Amber List (moderate evidence)
ECEL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis, distal, type 5D - 615065
  • Congenital cranial dysinnervation disorder
Tags
Amber Amber List (moderate evidence)
MYO9A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Tags
Red Red List (low evidence)
GRHL2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital
Tags
  • SV/CNV
Red Red List (low evidence)
TUBB2B
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital
  • Cortical dysplasia, complex, with other brain malformations 7
Tags

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