Limb-Girdle Muscular Dystrophy and Distal Myopathy (Version 1.27)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701; Distal myopathy MONDO:0018949
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease

Description

This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.

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

Panel Activity

18 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natalie Tan (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Ian Woodcock (Royal Children's Hospital)
Samantha Ayres (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Melanie Marty (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Karina Sandoval (Victorian Clinical Genetics Services)

102 Entities

102 reviewed, 84 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 102 Entitiess
Green Green List (high evidence)	ACTA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Myopathy, scapulohumeroperoneal 616852 Tags
Green Green List (high evidence)	ACTN2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 6, adult onset MIM#618655 Tags
Green Green List (high evidence)	ADSSL1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Tags
Green Green List (high evidence)	ANO5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Green Green List (high evidence)	BAG3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Myopathy, myofibrillar, 6 612954 Tags
Green Green List (high evidence)	BICD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949 Tags
Green Green List (high evidence)	BVES	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Tags
Green Green List (high evidence)	CAPN3	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129 Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Tags
Green Green List (high evidence)	CASQ1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Myopathy, vacuolar, with CASQ1 aggregates 616231 Tags founder
Green Green List (high evidence)	CAV3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Myopathy, distal, Tateyama type 614321 Rippling muscle disease 2 606072 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 list Expert Review Green Royal Melbourne Hospital Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green Green List (high evidence)	COL6A2	2 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 Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green Green List (high evidence)	COL6A3	2 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 Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green Green List (high evidence)	DAG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Green Green List (high evidence)	DES	4 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 Phenotypes Myopathy, myofibrillar, 1 601419 Tags
Green Green List (high evidence)	DM1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myotonic dystrophy 1 MIM#160900 Tags
Green Green List (high evidence)	DMD	3 reviews 3 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 Royal Melbourne Hospital Phenotypes Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376 Tags
Green Green List (high evidence)	DNAJB4	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes distal myopathy MONDO:0018949 Myopathy, MONDO:0005336, DNAJB4-related Tags
Green Green List (high evidence)	DNAJB6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1E, 603511 Tags
Green Green List (high evidence)	DNM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes autosomal dominant centronuclear myopathy MONDO:0008048 Tags
Green Green List (high evidence)	DOK7	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 10 254300 Tags
Green Green List (high evidence)	DPM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937 Tags
Green Green List (high evidence)	DYSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, distal, with anterior tibial onset, 606768 Miyoshi muscular dystrophy 1, 254130 Muscular dystrophy, limb-girdle, type 2B, 253601 Tags
Green Green List (high evidence)	EMD	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 Royal Melbourne Hospital Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 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 Royal Melbourne Hospital Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green Green List (high evidence)	FKRP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800 Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Cardiomyopathy, dilated, 1X, 611615 Tags
Green Green List (high evidence)	FLNC	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Cardiomyopathy, familial restrictive 5 617047 Myopathy, distal, 4 614065 Myopathy, myofibrillar, 5 609524 Tags
Green Green List (high evidence)	GAA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glycogen storage disease II 232300 Tags
Green Green List (high evidence)	GFPT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates MIM#610542 Limb-girdle congenital myasthenic syndrome Tags
Green Green List (high evidence)	GMPPB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Green Green List (high evidence)	GNE	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Nonaka myopathy (MIM#605820) Tags
Green Green List (high evidence)	GYG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polyglucosan body myopathy 2, MIM# 616199 Glycogen storage disease XV , MIM# 613507 Tags
Green Green List (high evidence)	HMGCR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Tags
Green Green List (high evidence)	HNRNPA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 3, MIM# 610099 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Tags
Green Green List (high evidence)	HNRNPA2B1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Tags
Green Green List (high evidence)	HNRNPDL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1G 609115 Tags
Green Green List (high evidence)	HSPB8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Tags
Green Green List (high evidence)	ISPD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags
Green Green List (high evidence)	KY	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Myopathy, myofibrillar, 7 (MIM#617114) Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes 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)	LDB3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myofibrillar myopathy 4 MONDO:0012277 Tags
Green Green List (high evidence)	LMNA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Tags
Green Green List (high evidence)	MATR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes distal myopathy with vocal cord weakness MONDO:0018951 Tags
Green Green List (high evidence)	MB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Myopathy, sarcoplasmic body MIM#620286 Tags
Green Green List (high evidence)	MRUPAV STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 Tags
Green Green List (high evidence)	MTM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Green Green List (high evidence)	MYH7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Expert Review Green Phenotypes Laing distal myopathy (MIM#160500) Scapuloperoneal syndrome, myopathic type (MIM#181430) Tags
Green Green List (high evidence)	MYL2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Tags
Green Green List (high evidence)	MYOT	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Myopathy, myofibrillar, 3 (MIM#609200) Tags
Green Green List (high evidence)	NEB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes distal myopathy MONDO:0018949 Tags
Green Green List (high evidence)	NIID STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green Green List (high evidence)	OPDM1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Oculopharyngodistal myopathy 1 MIM#164310 Tags
Green Green List (high evidence)	OPDM2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Oculopharyngodistal myopathy 2 MIM#618940 Tags
Green Green List (high evidence)	ORAI1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Myopathy, tubular aggregate, 2 (MIM#615883) Tags
Green Green List (high evidence)	PABPN1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes oculopharyngeal muscular dystrophy MONDO:0008116 Tags
Green Green List (high evidence)	PLEC	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Tags
Green Green List (high evidence)	PNPLA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neutral lipid storage disease with myopathy 610717 Tags
Green Green List (high evidence)	POGLUT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232) Tags
Green Green List (high evidence)	POMGNT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Tags
Green Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Tags
Green Green List (high evidence)	POMT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POMT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POPDC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848 Tags
Green Green List (high evidence)	PYROXD1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags
Green Green List (high evidence)	RYR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes calf predominant distal myopathy distal myopathy MONDO:0018949 Tags
Green Green List (high evidence)	SGCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, type 2D, 608099 autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Tags
Green Green List (high evidence)	SGCB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2E, 604286 Tags
Green Green List (high evidence)	SGCD	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 Tags
Green Green List (high evidence)	SGCG	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2C, 253700 Tags
Green Green List (high evidence)	SMCHD1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Green Green List (high evidence)	SMPX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Tags
Green Green List (high evidence)	SNUPN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 Tags
Green Green List (high evidence)	STIM1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Myopathy, tubular aggregate, 1 (MIM#160565) Stormorken syndrome (MIM#185070) Tags
Green Green List (high evidence)	SYNE1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green Green List (high evidence)	TCAP	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2G, 601954 Tags
Green Green List (high evidence)	TNPO3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green Green List (high evidence)	TRAPPC11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green Green List (high evidence)	TRIM32	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Green Green List (high evidence)	TTN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes dilated cardiomyopathy Distal myopathy HMERF Myofibrillar myopathy Congenital myopathy Muscular dystrophy, limb-girdle, type 2J, 608807 arthrogryposis Tags
Green Green List (high evidence)	UNC45B	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Myofibrillar myopathy 11 (MIM#619178) Tags
Green Green List (high evidence)	VCP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green Green List (high evidence)	VMA21	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags deep intronic
Green Green List (high evidence)	VPS13A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes chorea-acanthocytosis MONDO:0008695 Tags
Amber Amber List (moderate evidence)	ACADVL	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Phenotypes VLCAD deficiency 201475 Tags
Amber Amber List (moderate evidence)	ANXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags
Amber Amber List (moderate evidence)	CHKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 CHKB-Related Muscular Dystrophy Tags
Amber Amber List (moderate evidence)	CRYAB	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Amber Expert Review Green Phenotypes Myopathy, myofibrillar, 2, MIM# 608810 Tags
Amber Amber List (moderate evidence)	DNMT3B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber Amber List (moderate evidence)	ETFDH	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Phenotypes Glutaric acidemia IIC 231680 Tags
Amber Amber List (moderate evidence)	KLHL9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal myopathy MONDO:0018949 Tags
Amber Amber List (moderate evidence)	LAMP2	2 reviews 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 Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Danon disease (MIM#300257) Tags
Amber Amber List (moderate evidence)	LPIN1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Tags
Amber Amber List (moderate evidence)	LRIF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber Amber List (moderate evidence)	MAMDC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber Amber List (moderate evidence)	PFKM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Glycogen storage disease VII (MIM#232800) Tags
Amber Amber List (moderate evidence)	POMK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 Tags
Amber Amber List (moderate evidence)	PYGM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes McArdle disease (MIM#232600) Tags
Amber Amber List (moderate evidence)	SQSTM1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 multisystem proteinopathy Tags
Amber Amber List (moderate evidence)	SVIL	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Phenotypes Myofibrillar myopathy 10 (MIM#619040) Tags
Amber Amber List (moderate evidence)	TIA1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal myopathy, Welander type MONDO:0011466 Tags
Amber Amber List (moderate evidence)	TMEM43	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Tags

Major version comments

2023-06-05 06:15 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
All genes reviewed on panel

Limb-Girdle Muscular Dystrophy and Distal Myopathy (Version 1.27)

18 reviewers

102 Entities

102 reviewed, 84 green

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