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
GNAS-AS1	gene	GNAS-AS1	Expert Review Red;Literature	Imprinting disorders			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Pseudohypoparathyroidism type 1b MIM no: 603233				PMID: 22378814;15592469;29959430;25005734		False	1	0;0;100	1.3	True		ENSG00000235590	ENSG00000235590	HGNC:24872													
H19	gene	H19	Expert Review Red;Genomics England PanelApp	Imprinting disorders			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation);Affected tissue: all;Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome				PMID: 20007505;15743916;23118352;[21863054;21571108;18245780];24916376;25943194		False	1	0;0;100	1.3	True		ENSG00000130600	ENSG00000130600	HGNC:4713													
L3MBTL1	gene	L3MBTL1	Expert Review Red;Genomics England PanelApp	Imprinting disorders			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Affected tissue: myeloid lineages;Phenotype resulting from under expression: lymphoid malignancy				23543057;15123827;30794780		False	1	0;0;100	1.3	True		ENSG00000185513	ENSG00000185513	HGNC:15905													
OOEP	gene	OOEP	Expert Review Red;Literature	Imprinting disorders			BIALLELIC, autosomal or pseudoautosomal	Multi locus imprinting disturbance in offspring				29574422		False	1	0;50;50	1.3	True		ENSG00000203907	ENSG00000203907	HGNC:21382													
UHRF1	gene	UHRF1	Expert Review Red;Literature	Imprinting disorders			BIALLELIC, autosomal or pseudoautosomal	Multi locus imprinting disturbance in offspring				29574422;28976982		False	1	0;50;50	1.3	True		ENSG00000034063	ENSG00000276043	HGNC:12556													
ZAR1	gene	ZAR1	Expert Review Red;Literature	Imprinting disorders			BIALLELIC, autosomal or pseudoautosomal	Multi locus imprinting disturbance in offspring				29574422;31598710;12539046		False	1	0;50;50	1.3	True		ENSG00000182223	ENSG00000182223	HGNC:20436													
ZNF445	gene	ZNF445	Expert Review Red;Literature	Imprinting disorders			BIALLELIC, autosomal or pseudoautosomal	Temple syndrome;Multi locus imprinting disturbance (MLID)				PMID: 34039421;30602440;30846001		False	1	0;50;50	1.3	True		ENSG00000185219	ENSG00000185219	HGNC:21018