Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ANXA11	gene	ANXA11	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inclusion body myopathy and brain white matter abnormalities, OMIM:619733;inclusion body myopathy and brain white matter abnormalities, MONDO:0850514				34048612;36134701;36651622;40730020		False	2	100;0;0	5.41	False		ENSG00000122359	ENSG00000122359	HGNC:535													
CASQ1	gene	CASQ1	Expert Review;Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231				26136523;28895244;29039140;30258016;34908252;36514469		False	2	50;50;0	5.41	False		ENSG00000143318	ENSG00000143318	HGNC:1512													
DPM3	gene	DPM3	Expert Review;Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937;DPM3-congenital disorder of glycosylation, MONDO:0013049;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992;muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556				19576565;28803818;31266720		False	2	75;25;0	5.41	True		ENSG00000179085	ENSG00000179085	HGNC:3007													
GUK1	gene	GUK1	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 21, OMIM:621071				39230499		False	2	100;0;0	5.41	False		ENSG00000143774	ENSG00000143774	HGNC:4693													
HNRNPA1	gene	HNRNPA1	Expert Review Amber;Other	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949				34291734;34722876;35550112;39072769		False	2	100;0;0	5.41	False		ENSG00000135486	ENSG00000135486	HGNC:5031													
LRIF1	gene	LRIF1	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Facioscapulohumeral muscular dystrophy				32467133		False	2	0;100;0	5.41	False		ENSG00000121931	ENSG00000121931	HGNC:30299													
PABPN1	gene	PABPN1	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116				16648376;21742497;34225694;36847015		False	2	100;0;0	5.41	False		ENSG00000100836	ENSG00000100836	HGNC:8565													
POGLUT1	gene	POGLUT1	Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232;autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977				27807076;29034878;31897643;33861953		False	2	100;0;0	5.41	False		ENSG00000163389	ENSG00000163389	HGNC:22954													
RDH11	gene	RDH11	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118				24916380;34988992;41459630;41904678		False	2	100;0;0	5.41	False		ENSG00000072042	ENSG00000072042	HGNC:17964													
SRPK3	gene	SRPK3	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Slowly progressive myopathy, digenic				16140986;38429495;39667923		False	2	100;0;0	5.41	False		ENSG00000184343	ENSG00000184343	HGNC:11402													
SVIL	gene	SVIL	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620						False	2	0;100;0	5.41	False		ENSG00000197321	ENSG00000197321	HGNC:11480													
TK2	gene	TK2	Expert Review Amber;NHS GMS	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301				22345218;23303857;24198295;25948719;35280287;37527940;38544965;40098049		False	2	100;0;0	5.41	False		ENSG00000166548	ENSG00000166548	HGNC:11831													
PABPN1_GCN	str	PABPN1	Expert Review Amber;Literature	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies		Neurology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116				27858728;28011929		False	2	100;0;0	5.41	False		ENSG00000100836	ENSG00000100836	HGNC:8565	14	23790682	23790711	23321473	23321501	GCN	10	11