PanelApp (test)
  1. Panels
  2. Gastrointestinal neuromuscular disease
Description
This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.

It was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. It is a consensus panel used by VCGS.

This panel has been compared against the Genomics England PanelApp "Gastrointestinal neuromuscular disorders" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.
Panel Activity

9 reviewers

  • Shannon LeBlanc (Victorian Clinical Genetics Services)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

  • Ee Ming Wong (Victorian Clinical Genetics Services)

41 Entities

41 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
41 Entitiess
Green Green List (high evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
  • Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Tags
Green Green List (high evidence)
ACTG2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Visceral myopathy, 155310
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Tags
Green Green List (high evidence)
ATRX
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 Review Green
  • NHS GMS
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
Tags
Green Green List (high evidence)
CHRM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Prune belly syndrome, MIM# 100100
  • Posterior urethral valves & prune belly syndrome
Tags
Green Green List (high evidence)
CLMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital short bowel syndrome , MIM#615237
Tags
Green Green List (high evidence)
DES
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 1 , MIM#601419
Tags
Green Green List (high evidence)
DMD
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Duchenne muscular dystrophy, MIM# 310200
Tags
  • SV/CNV
Green Green List (high evidence)
EDN3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Waardenburg syndrome, type 4B, MIM# 613265
Tags
Green Green List (high evidence)
EDNRB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Waardenburg syndrome, type 4A, MIM# 277580
Tags
Green Green List (high evidence)
ERBB3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180
  • Complex neurocristinopathy
Tags
Green Green List (high evidence)
FLNA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Intestinal pseudoobstruction, neuronal, MIM# 300048
  • Congenital short bowel syndrome, MIM# 300048
Tags
Green Green List (high evidence)
IDS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis II, MIM# 309900
Tags
Green Green List (high evidence)
L1CAM
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000
Tags
Green Green List (high evidence)
LIG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Tags
Green Green List (high evidence)
MPV17
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Tags
Green Green List (high evidence)
MYH11
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Visceral myopathy 2, MIM# 619350
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351
  • Dominant smooth muscle dysmotility syndrome
Tags
Green Green List (high evidence)
MYL9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Optic atrophy 3 MONDO:0008133
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Tags
Green Green List (high evidence)
RAD21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities
Tags
Green Green List (high evidence)
RET
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880
  • Multiple endocrine neoplasia IIA, MIM# 171400
  • Multiple endocrine neoplasia IIB, MIM# 162300
Tags
Green Green List (high evidence)
RRM2B
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MIRAGE syndrome, MIM# 617053
Tags
Green Green List (high evidence)
SCN11A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
Tags
Green Green List (high evidence)
SOX10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • PCWH syndrome, MIM# 609136
Tags
Green Green List (high evidence)
TYMP
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
  • MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Tags
Amber Amber List (moderate evidence)
LMOD1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Tags
Amber Amber List (moderate evidence)
MYLK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210
Tags
Amber Amber List (moderate evidence)
NRG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hirschsprung disease
Tags
Amber Amber List (moderate evidence)
PDCL3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • megacystis-microcolon
Tags
Amber Amber List (moderate evidence)
SGO1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Chronic atrial and intestinal dysrhythmia, MIM# 616201
Tags
  • founder
Red Red List (low evidence)
ECE1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870
Tags
Red Red List (low evidence)
GDNF
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • {Hirschsprung disease, susceptibility to, 3} MIM#613711
Tags
Red Red List (low evidence)
MIR145
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • multisystemic smooth muscle dysfunction syndrome (MONDO:0013452)
Tags
Red Red List (low evidence)
NRG3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
NRTN
1 review
1 red 		Unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
OPA1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • gastrointestinal pseudo-obstruction
Tags
Red Red List (low evidence)
POLG2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Tags
Red Red List (low evidence)
SEMA3C
1 review
1 red 		Unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
SEMA3D
1 review
1 red 		Unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
TMEM70
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Tags

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