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
CDON	gene	CDON	Expert Review Amber;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 11 (614226)			Hypopituitarism;HP:0040075	21802063;29749693;32729136;33270637;26529631;27974186		False	2	0;100;0	0.35	True		ENSG00000064309	ENSG00000064309	HGNC:17104													
GHSR	gene	GHSR	Expert Review Amber;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Growth hormone deficiency, isolated partial (615925)			Hypopituitarism;HP:0040075	19789204;25557026;16511605		False	2	0;100;0	0.35	True		ENSG00000121853	ENSG00000121853	HGNC:4267													
KCNQ1	gene	KCNQ1	Expert Review Amber;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pituitary hormone deficiency;Long QT syndrome 1 (192500)			Hypopituitarism;HP:0040075	29097701		False	2	0;0;0	0.35	False		ENSG00000053918	ENSG00000053918	HGNC:6294													
RBM28	gene	RBM28	Expert Review Amber;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	ANE syndrome;Alopecia, neurologic defects, and endocrinopathy syndrome (612079)			Hypopituitarism;HP:0040075	20231366;18439547;33941690		False	2	0;100;0	0.35	True		ENSG00000106344	ENSG00000106344	HGNC:21863													
SHH	gene	SHH	Expert Review Amber;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia with coloboma 5 (611638);Holoprosencephaly 3  (142945)			Hypopituitarism;HP:0040075	22897141		False	2	0;0;0	0.35	False		ENSG00000164690	ENSG00000164690	HGNC:10848													
SOX3	gene	SOX3	Expert Review Amber;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Panhypopituitarism, X-linked (312000);Mental retardation, X-linked, with isolated growth hormone deficiency (300123)			Hypopituitarism;HP:0040075	24346842;15800844;21289259;24737742		False	2	0;100;0	0.35	True		ENSG00000134595	ENSG00000134595	HGNC:11199													
TBC1D32	gene	TBC1D32	Expert Review Amber;Literature	Pituitary hormone deficiency		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic hypopituitarism			Hypopituitarism;HP:0040075	32573025;32060556		False	2	0;100;0	0.35	True		ENSG00000146350	ENSG00000146350	HGNC:21485													
TCF7L1	gene	TCF7L1	Expert Review Amber;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	No OMIM number;pituitary hormone deficiency			Hypopituitarism;HP:0040075	26764381		False	2	0;0;0	0.35	False		ENSG00000152284	ENSG00000152284	HGNC:11640