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
ARNT2	gene	ARNT2	Expert Review Amber;Genetic Health Queensland;Genomics England PanelApp;Literature	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Webb-Dattani syndrome 615926			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	24022475, 11381139		False	2	0;100;0	0.76	True		ENSG00000172379	ENSG00000172379	HGNC:16876													
CDON	gene	CDON	Expert Review Amber;Genomics England PanelApp	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 11 (614226)			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	21802063;29749693;32729136;33270637;26529631;27974186		False	2	0;100;0	0.76	True		ENSG00000064309	ENSG00000064309	HGNC:17104													
ESRP2	gene	ESRP2	Expert list;Expert Review Amber	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft palate, MONDO:0016064;Hypopituitarism MONDO:0005152			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	29805042		False	2	100;0;0	0.76	True		ENSG00000103067	ENSG00000103067	HGNC:26152													
IARS2	gene	IARS2	Expert Review Amber;Literature	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, MONDO:0014455			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	30419932		False	2	0;100;0	0.76	True		ENSG00000067704	ENSG00000067704	HGNC:29685													
MCM4	gene	MCM4	Expert Review Amber;Victorian Clinical Genetics Services	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 54 MIM# 609981;Decreased NK cell number and function;Viral infections (EBV, HSV, VZV);Short stature;B cell lymphoma;Adrenal failure;Failure to thrive;Microcephaly;Increased chromosomal breakage;Hyperpigmentation;Lymphadenopathy			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	22354167;22354170;22499342		False	2	0;100;0	0.76	True		ENSG00000104738	ENSG00000104738	HGNC:6947													
RAX	gene	RAX	Expert Review Amber;Literature	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 16, MIM#611038			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	30811539, 40321348		False	2	0;100;0	0.76	True		ENSG00000134438	ENSG00000134438	HGNC:18662													
RBM28	gene	RBM28	Expert Review Amber;Genomics England PanelApp	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	ANE syndrome;Alopecia, neurologic defects, and endocrinopathy syndrome (612079)			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	20231366;18439547;33941690		False	2	0;100;0	0.76	True		ENSG00000106344	ENSG00000106344	HGNC:21863													
SHH	gene	SHH	Expert Review Amber;Genomics England PanelApp	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypopituitarism, MONDO:0005152;Microphthalmia with coloboma 5 (611638);Holoprosencephaly 3  (142945)			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	22897141		False	2	0;100;0	0.76	True		ENSG00000164690	ENSG00000164690	HGNC:10848													
TGIF1	gene	TGIF1	Expert Review Amber;Genomics England PanelApp	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 4, MONDO:0007734			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	23476075, 34440302		False	2	0;100;0	0.76	True		ENSG00000177426	ENSG00000177426	HGNC:11776													
WNT4	gene	WNT4	Expert List;Expert Review Amber	Adrenal insufficiency	Adrenal disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	SERKAL syndrome, OMIM #611812			Adrenal insufficiency;HP:0000846; Congenital adrenal hypoplasia;HP:0008244	18179883		False	2	0;100;0	0.76	True		ENSG00000162552	ENSG00000162552	HGNC:12783