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	gene	GNAS	Expert Review Green;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	Other	Pseudohypoparathyroidism Ia (103580) AD;Pseudohypoparathyroidism Ib (603233) AD;Pseudohypoparathyroidism Ic (612462) AD;Pseudopseudohypoparathyroidism (612463);Osseous heteroplasia, progressive (166350) AD;Pituitary adenoma 3, multiple types, somatic (617686)						False	3	100;0;0	0.33	True		ENSG00000087460	ENSG00000087460	HGNC:4392													
HOXD13	gene	HOXD13	Expert Review Green;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brachydactyly, type E, 113300				34777468;12649808		False	3	100;0;0	0.33	True		ENSG00000128714	ENSG00000128714	HGNC:5136													
PDE4D	gene	PDE4D	Expert Review Green;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Acrodysostosis 2, with or without hormone resistance, MIM# 614613				22464250;22464252;23033274;24203977		False	3	100;0;0	0.33	True		ENSG00000113448	ENSG00000113448	HGNC:8783													
PRKAR1A	gene	PRKAR1A	Expert Review Green;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Acrodysostosis 1, with or without hormone resistance, MIM# 101800				21651393;22464250		False	3	100;0;0	0.33	True		ENSG00000108946	ENSG00000108946	HGNC:9388													
PRMT7	gene	PRMT7	Expert Review Green;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	Unknown							False	3	100;0;0	0.33	False		ENSG00000132600	ENSG00000132600	HGNC:25557													
PTHLH	gene	PTHLH	Expert Review Green;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	Unknown	Brachydactyly, type E2, MIM# 613382				20015959;34897794;29947179;28211986		False	3	100;0;0	0.33	True		ENSG00000087494	ENSG00000087494	HGNC:9607													
STX16	gene	STX16	Expert Review Green;Victorian Clinical Genetics Services	Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Pseudohypoparathyroidism type 1b MIM#: 603233				1456170;15579741;15800843;33320452;32337648;33247854;29959430		False	3	100;0;0	0.33	True		ENSG00000124222	ENSG00000124222	HGNC:11431