PanelApp (test)
  1. Panels
  2. Rhabdomyolysis and Metabolic Myopathy
Description
This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.

Depending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.

This panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.
Panel Activity

8 reviewers

  • Sarah Donoghue (Royal Children's Hospital)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

22 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green Green List (high evidence)
AARS2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency 8 MIM#614096
Tags
Green Green List (high evidence)
ABHD5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dorfman-Chanarin disease MONDO:0010155
Tags
Green Green List (high evidence)
AGK
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Sengers Syndrome (MIM#212350
  • MONDO:0008922)
Tags
Green Green List (high evidence)
AHCY
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Tags
Green Green List (high evidence)
AIFM1
4 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816)
  • Encephalamyopathy, Mitochondrial, X-Linked
Tags
Green Green List (high evidence)
DGUOK
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
  • Portal hypertension, noncirrhotic, 1, MIM# 617068
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Tags
Green Green List (high evidence)
FASTKD2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency 44 (MIM#618855)
Tags
Green Green List (high evidence)
GFER
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076)
Tags
Green Green List (high evidence)
HMBS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria, acute intermittent MIM#176000
Tags
Green Green List (high evidence)
MAN2B1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alpha-mannosidosis MONDO:0009561
Tags
Green Green List (high evidence)
PGM1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type It, MIM# 614921
Tags
  • treatable
Green Green List (high evidence)
RMND1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation defect type 11 MONDO:0013969
Tags
Green Green List (high evidence)
SCO2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451
Tags
Green Green List (high evidence)
SLC25A20
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency MIM#212138
Tags
Green Green List (high evidence)
SLC25A32
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Exercise intolerance, riboflavin-responsive MONDO:0014795
Tags
Green Green List (high evidence)
SLC52A2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-van Laere syndrome 2 MONDO:0013867
Tags
Green Green List (high evidence)
SLC52A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Tags
Green Green List (high evidence)
SUCLA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags
Green Green List (high evidence)
SUCLG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • mitochondrial DNA depletion syndrome 9 MONDO:0009504
Tags
Green Green List (high evidence)
TAMM41
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139
Tags
Green Green List (high evidence)
TK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
Green Green List (high evidence)
TSFM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags

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