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
CYP11B1	gene	CYP11B1	Expert Review Green;Victorian Clinical Genetics Services	Congenital adrenal hyperplasia	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010			Congenital adrenal hyperplasia;HP:0008258	8768848		False	3	100;0;0	0.8	True		ENSG00000160882	ENSG00000160882	HGNC:2591													
CYP17A1	gene	CYP17A1	Expert list;Expert Review Green	Congenital adrenal hyperplasia	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110			Congenital adrenal hyperplasia;HP:0008258	PMID: 2843762, 14671162, 2026124		False	3	100;0;0	0.8	True		ENSG00000148795	ENSG00000148795	HGNC:2593													
CYP21A2	gene	CYP21A2	Expert list;Expert Review Green	Congenital adrenal hyperplasia	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910			Congenital adrenal hyperplasia;HP:0008258			False	3	100;0;0	0.8	True		ENSG00000231852	ENSG00000231852	HGNC:2600													
HSD3B2	gene	HSD3B2	Expert Review Green;Victorian Clinical Genetics Services	Congenital adrenal hyperplasia	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810			Congenital adrenal hyperplasia;HP:0008258	1363812;18252794		False	3	100;0;0	0.8	True		ENSG00000203859	ENSG00000203859	HGNC:5218													
POR	gene	POR	Expert Review Green;Victorian Clinical Genetics Services	Congenital adrenal hyperplasia	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571			Congenital adrenal hyperplasia;HP:0008258	27068427		False	3	100;0;0	0.8	True		ENSG00000127948	ENSG00000127948	HGNC:9208													
STAR	gene	STAR	Expert Review Green;Victorian Clinical Genetics Services	Congenital adrenal hyperplasia	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Lipoid adrenal hyperplasia (MIM#201710)			Congenital adrenal hyperplasia;HP:0008258	7892608;8634702		False	3	100;0;0	0.8	True		ENSG00000147465	ENSG00000147465	HGNC:11359