Muscular dystrophy and myopathy_Paediatric (Version 2.0)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236; Myopathy, HP:0003198
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease

Description

This panel was developed and is maintained by VCGS and RMH.

It contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.

Please use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.

Panel Activity

22 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Samantha Ayres (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Chern Lim (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

146 Entities

146 reviewed, 113 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 146 Entitiess
Green Green List (high evidence)	ACTA1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800 Tags
Green Green List (high evidence)	ACTN2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Expert Review Green Disease associations Congenital Myopathy 8 (MIM#618654 MONDO: 0032852) ACTN2-related cardiac and skeletal myopathy, MONDO:0700349 Tags
Green Green List (high evidence)	ADSS1	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Victorian Clinical Genetics Services Disease associations Nemaline myopathy MONDO:0018958 Tags
Green Green List (high evidence)	ALG14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation Tags
Green Green List (high evidence)	ASCC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Disease associations Congenital Myopathy - MONDO:0019952 Tags
Green Green List (high evidence)	ASCC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Disease associations Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Tags
Green Green List (high evidence)	ATP6V1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IID MIM#617403 Tags
Green Green List (high evidence)	B3GALNT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green Green List (high evidence)	B4GAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Tags
Green Green List (high evidence)	BIN1	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Disease associations Centronuclear myopathy 2 (MONDO: 0009709 MIM#255200) Tags
Green Green List (high evidence)	CACNA1S	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Congenital myopathy MONDO:0019952 Tags
Green Green List (high evidence)	CAV3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations Caveolinopathy MONDO:0016146 Tags
Green Green List (high evidence)	CAVIN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Disease associations Lipodystrophy, congenital generalized, type 4 (MIM#613327) Tags treatable
Green Green List (high evidence)	CFL2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Nemaline myopathy 7 (MONDO:0012538 MIM#610687) Tags
Green Green List (high evidence)	CHKB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green Green List (high evidence)	CHST14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Amber Expert Review Green Disease associations Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Tags
Green Green List (high evidence)	CIAO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Tags
Green Green List (high evidence)	COL12A1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ullrich congenital muscular dystrophy 2 , MIM# 616470 Tags
Green Green List (high evidence)	COL6A1	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 Disease associations Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green Green List (high evidence)	COL6A2	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COL6A3	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CRPPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags new gene name SV/CNV
Green Green List (high evidence)	CSMD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	DAG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Walker-Warburg syndrome and tectocerebellar dysgraphia Tags
Green Green List (high evidence)	DHX16	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Other Disease associations Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733 MONDO:0032890) Tags
Green Green List (high evidence)	DMD	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Duchenne muscular dystrophy (MIM#310200) Becker muscular dystrophy (MIM#300376) Tags SV/CNV
Green Green List (high evidence)	DNAJB4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Disease associations Congenital Myopathy 21 with early respiratory failure (MIM#620326 MONDO:005336) Tags
Green Green List (high evidence)	DNAJB6	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DNM2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Autosomal dominant centronuclear myopathy MONDO:0008048 Tags
Green Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations tubular aggregate myopathy MONDO:0008051 Tags
Green Green List (high evidence)	DPM1	2 reviews 1 green	Unknown	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DPM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Tags
Green Green List (high evidence)	DST	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital myopathy 29 with contractures, MIM# 621510 Lethal congenital contracture syndrome 12, MIM# 621511 Tags
Green Green List (high evidence)	DTNA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green Green List (high evidence)	DYNC1H1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Other Disease associations Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600 MONDO:0008026) Tags
Green Green List (high evidence)	DYSF	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	EMD	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green Green List (high evidence)	EPG5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Vici Syndrome (MONDO: 0009452 MIM#242840) Tags
Green Green List (high evidence)	FAM111B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Tags
Green Green List (high evidence)	FHL1	3 reviews 2 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 Disease associations Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717 Tags
Green Green List (high evidence)	FILIP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Disease associations Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Tags
Green Green List (high evidence)	FKBP14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Tags
Green Green List (high evidence)	FKRP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations myopathy caused by variation in FKRP MONDO:0700066 Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green Green List (high evidence)	FXR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Disease associations Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823 MONDO:0032937) Tags
Green Green List (high evidence)	GGPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518 Muscular dystrophy Deafness Ovarian insufficiency Tags
Green Green List (high evidence)	GMPPB	1 review 1 green	Unknown	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GOLGA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Green Green List (high evidence)	GOSR2	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Muscular dystrophy, congenital, with or without seizures, MIM# 620166 Tags
Green Green List (high evidence)	HACD1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Disease associations Congenital myopathy 11 (MIM#619967 MONDO:0019952) Tags
Green Green List (high evidence)	HMGCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital myopathy 28 with rigid spine, MIM# 621433 Tags
Green Green List (high evidence)	INPP4A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354 Tags
Green Green List (high evidence)	INPP5K	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404 Tags founder
Green Green List (high evidence)	ITGA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Tags
Green Green List (high evidence)	JAG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566 muscular dystrophy Tags
Green Green List (high evidence)	JPH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Congenital myopathy 25, MIM# 620964 Tags
Green Green List (high evidence)	KBTBD13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Nemaline myopathy 6, autosomal dominant (MIM# 609273 MONDO:0012237) Tags
Green Green List (high evidence)	KLHL40	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags
Green Green List (high evidence)	KLHL41	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Nemaline Myopathy 9 (MIM#615731 MONDO:0014326) Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green Green List (high evidence)	LARGE1	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LMNA	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LMOD3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Nemaline myopathy 10 (MIM# 616165 MONDO:0014513) Tags
Green Green List (high evidence)	MAP3K20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Royal Melbourne Hospital Disease associations Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760 MONDO:0054695) Tags
Green Green List (high evidence)	MEGF10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations MEGF10-Related Myopathy MONDO:0013731 Tags
Green Green List (high evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MSTO1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Disease associations Myopathy, mitochondrial, and ataxia (MIM#617675) Tags
Green Green List (high evidence)	MT-ND2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-ND2-related Tags mtDNA
Green Green List (high evidence)	MTM1	2 reviews 2 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 Literature Disease associations X-linked myotubular myopathy MONDO:0010683 Tags
Green Green List (high evidence)	MYBPC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Disease associations Congenital Myopathy 16 (MIM#618524) Tags
Green Green List (high evidence)	MYH2	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Myopathy, proximal, and ophthalmoplegia MONDO:0011577 Tags
Green Green List (high evidence)	MYH7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations MYH7-related skeletal myopathy MONDO:0008050 Tags
Green Green List (high evidence)	MYL1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Disease associations Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414 Tags
Green Green List (high evidence)	MYMK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Disease associations Carey-Fineman-Ziter syndrome MONDO:0009700 Tags
Green Green List (high evidence)	MYMX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Carey-Fineman-Ziter syndrome MONDO:0009700 Tags
Green Green List (high evidence)	MYO18B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689 Tags
Green Green List (high evidence)	MYOD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Disease associations Congenital Myopathy 17 (MIM#618975) Tags
Green Green List (high evidence)	MYPN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Disease associations Nemaline Myopathy (MIM#617336 MONDO:0018958) Tags
Green Green List (high evidence)	NEB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Disease associations Nemaline Myopathy 2 (MIM#256030 MONDO: 0009725) Tags
Green Green List (high evidence)	ORAI1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations tubular aggregate myopathy MONDO:0008051 Tags
Green Green List (high evidence)	PAX7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Disease associations Congenital myopathy 19 (MIM#618578) Tags
Green Green List (high evidence)	PLEC	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Tags
Green Green List (high evidence)	POMGNT1	2 reviews 2 green	Unknown	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMGNT2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094 Tags
Green Green List (high evidence)	POMT1	2 reviews 2 green	Unknown	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMT2	2 reviews 2 green	Unknown	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PYROXD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Myofibrillar myopathy 8 MONDO:0014993 Tags
Green Green List (high evidence)	RFC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 Tags
Green Green List (high evidence)	RXYLT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Tags
Green Green List (high evidence)	RYR1	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Central core disease (MIM#117000) Minicore myopathy with external ophthalmoplegia (MIM#255320) Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) Tags
Green Green List (high evidence)	SELENON	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy, rigid spine, 1 (MIM#602771) Tags
Green Green List (high evidence)	SIL1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Marinesco-Sjogren syndrome (MIM#248800) Tags
Green Green List (high evidence)	SLC4A10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Tags
Green Green List (high evidence)	SNUPN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Tags
Green Green List (high evidence)	SPEG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Centronuclear myopathy 5, MIM# 615959 Tags
Green Green List (high evidence)	SRPK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Tags digenic
Green Green List (high evidence)	STAC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Congenital myopathy 13 (MIM#255995) Tags
Green Green List (high evidence)	STIM1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations tubular aggregate myopathy MONDO:0008051 Tags
Green Green List (high evidence)	SYNE1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green Green List (high evidence)	TNNT1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Nemaline myopathy 5 MONDO:0011539 Nemaline myopathy MONDO:0018958 Tags
Green Green List (high evidence)	TNNT3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Nemaline myopathy MONDO:0018958 Tags
Green Green List (high evidence)	TOR1AIP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Progeroid appearance Cataracts Microcephaly Deafness Contractures Tags
Green Green List (high evidence)	TPM2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Disease associations Nemaline myopathy 4, autosomal dominant (MIM#609285) Tags
Green Green List (high evidence)	TPM3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Congenital myopathy 4A, autosomal dominant (MIM#255310) Congenital myopathy 4B, autosomal recessive (MIM#609284) Tags
Green Green List (high evidence)	TRAPPC11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356) Tags
Green Green List (high evidence)	TRDN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Tags
Green Green List (high evidence)	TRIP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Disease associations ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066) Tags
Green Green List (high evidence)	TTN	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Disease associations TTN-related myopathy MONDO:0100175 Tags digenic
Green Green List (high evidence)	UNC45B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green Green List (high evidence)	WSB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Luo-Agrawal neurodevelopmental syndrome, MIM# 621552 Tags
Amber Amber List (moderate evidence)	B3GNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy Tags
Amber Amber List (moderate evidence)	BBOX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Carnitine deficiency, MONDO:0017716, BBOX1-related Tags
Amber Amber List (moderate evidence)	BET1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Tags
Amber Amber List (moderate evidence)	CACNB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital muscular dystrophy MONDO:0020121, CACNB1-related Tags
Amber Amber List (moderate evidence)	CAPN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 1 253600 Tags
Amber Amber List (moderate evidence)	CASQ1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Disease associations tubular aggregate myopathy MONDO:0008051 Tags
Amber Amber List (moderate evidence)	CCDC78	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Other Victorian Clinical Genetics Services Disease associations Centronuclear Myopathy (MIM#614807 MONDO: 0018947) Tags
Amber Amber List (moderate evidence)	CHRNA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital myopathy MONDO:0019952 Tags
Amber Amber List (moderate evidence)	CNTN1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Other Victorian Clinical Genetics Services Disease associations Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929 MIM#612540) Tags
Amber Amber List (moderate evidence)	COL4A1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Disease associations Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773 Brain small vessel disease with or without ocular anomalies MIM#175780 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Tags
Amber Amber List (moderate evidence)	COL9A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Epiphyseal dysplasia, multiple, 2 MIM#600204 Tags
Amber Amber List (moderate evidence)	COL9A3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969 Tags
Amber Amber List (moderate evidence)	COMP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Epiphyseal dysplasia, multiple, 1 MIM#132400 Tags
Amber Amber List (moderate evidence)	DPM2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Iu, MIM# 615042 Tags
Amber Amber List (moderate evidence)	HRAS	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Disease associations Congenital myopathy with excess of muscle spindles (MIM#218040) Tags
Amber Amber List (moderate evidence)	MAMDC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber Amber List (moderate evidence)	MTMR14	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Other Disease associations {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Tags
Amber Amber List (moderate evidence)	PACSIN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital myopathy 27, MIM# 621343 Tags
Amber Amber List (moderate evidence)	POGLUT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Muscular dystrophy, MONDO:0020121, POGLUT1-related Tags
Amber Amber List (moderate evidence)	TNNC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Literature Other Disease associations Congenital Myopathy 15 (MIM#62016) Tags
Amber Amber List (moderate evidence)	TUBA4A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Congenital myopathy 26, MIM# 621225 Tags
Red Red List (low evidence)	B3GNT4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Disease associations Hereditary neurological disease, MONDO:0100545, B3GNT4-related Tags
Red Red List (low evidence)	CHRND	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations congenital myopathy MONDO:0019952 Tags
Red Red List (low evidence)	COL4A2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Red Disease associations Brain small vessel disease 2 614483 Tags
Red Red List (low evidence)	EXOSC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations congenital myopathy MONDO:0019952 Tags
Red Red List (low evidence)	FOXK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Myopathy, MONDO:0005336, FOXK2-related Tags
Red Red List (low evidence)	FOXP3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations congenital myopathy MONDO:0019952 Tags
Red Red List (low evidence)	IDUA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations congenital myopathy MONDO:0019952 Tags
Red Red List (low evidence)	MMS19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodegenerative disease, MONDO:0005559, MMS19-related Tags
Red Red List (low evidence)	MYBPC3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Red Disease associations Cardiomyopathy with myopathy Tags
Red Red List (low evidence)	OPA1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Disease associations congenital myopathy MONDO:0019952 Tags
Red Red List (low evidence)	SOX8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red Red List (low evidence)	TCAP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954) Tags

Muscular dystrophy and myopathy_Paediatric (Version 2.0)

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146 Entities

146 reviewed, 113 green

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