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
CAVIN1	gene	CAVIN1	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Lipodystrophy, congenital generalized, type 4 613327						False	1	0;0;100	1.30	False		ENSG00000177469	ENSG00000177469	HGNC:9688													
COG7	gene	COG7	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	Unknown	Congenital disorder of glycosylation, type IIe 608779				17356545		False	1	0;0;100	1.30	False		ENSG00000168434	ENSG00000168434	HGNC:18622													
DMPK	gene	DMPK	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	Other	Myotonic dystrophy 1, OMIM:160900				27695335;27358583;27253733;26640575;26586700		False	1	50;0;50	1.30	False	Other - please provide details in the comments	ENSG00000104936	ENSG00000104936	HGNC:2933													
EVC2	gene	EVC2	Expert Review Red;Literature	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	"	Ellis-van Creveld syndrome, with chronic intestinal pseudo-obstruction 225500"				26818569		False	1	33;33;33	1.30	False		ENSG00000173040	ENSG00000173040	HGNC:19747													
MT-TK	gene	MT-TK	Expert Review Red;Literature	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	MITOCHONDRIAL	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME				9380435		False	1	0;0;100	1.30	False		ENSG00000210156	ENSG00000210156	HGNC:7489													
SGO1	gene	SGO1	Expert Review Red;Other	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Chronic atrial and intestinal dysrhythmia 616201 				25282101		False	1	33;0;67	1.30	False		ENSG00000129810	ENSG00000129810	HGNC:25088													
SMO	gene	SMO	Expert Review Red;Literature	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	Other - please specify in evaluation comments	Curry-Jones syndrome, somatic mosaic 601707				27236920		False	1	0;0;100	1.30	False		ENSG00000128602	ENSG00000128602	HGNC:11119													
TTC7A	gene	TTC7A	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Gastrointestinal defects and immunodeficiency syndrome 243150						False	1	0;0;100	1.30	False		ENSG00000068724	ENSG00000068724	HGNC:19750													
DMPK_CTG	str	DMPK	NHS GMS;Expert Review Red;Expert list	Gastrointestinal neuromuscular disorders	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 1, OMIM:160900						False	1	100;0;0	1.30	False		ENSG00000104936	ENSG00000104936	HGNC:2933	19	46273463	46273522	45770205	45770264	CTG	35	50