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;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Pseudohypoparathyroidism type 1b MIM no: 603233				22378814;15592469;29959430;25005734		False	1	0;0;100	0.33	True		ENSG00000235590	ENSG00000235590	HGNC:24872													
HDAC4	gene	HDAC4	Expert Review Red;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brachydactyly mental retardation syndrome;Brachydactyly without intellectual disability				24715439;20691407;31209962		False	1	0;50;50	0.33	True		ENSG00000068024	ENSG00000068024	HGNC:14063													
TBCE	gene	TBCE	Expert Review Red;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410						False	1	0;0;100	0.33	True		ENSG00000116957	ENSG00000116957	HGNC:11582