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
BMP4	gene	BMP4	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia, syndromic 6,  OMIM:607932				24289245;31120642;18252212;35633847		False	2	0;0;100	4.4	False		ENSG00000125378	ENSG00000125378	HGNC:1071													
CDON	gene	CDON	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 11 (614226)				26529631;21802063		False	2	0;0;0	4.4	False		ENSG00000064309	ENSG00000064309	HGNC:17104													
DCHS2	gene	DCHS2	Expert review;Expert Review Amber	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	pituitary stalk interruption syndrome, MONDO:0019828				33108146		False	2	0;100;0	4.4	False		ENSG00000197410	ENSG00000197410	HGNC:23111													
EIF2S3	gene	EIF2S3	Expert review;Expert Review Amber	Pituitary hormone deficiency		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	hypopituitarism, MONDO:0005152;glucose intolerance, MONDO:0001076;MEHMO syndrome, OMIM:300148;MEHMO syndrome, MONDO:0010258				30878599;23063529;27333055;28055140		False	2	0;0;0	4.4	False		ENSG00000130741	ENSG00000130741	HGNC:3267													
FAT2	gene	FAT2	Expert review;Expert Review Amber	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 45, OMIM:617769;spinocerebellar ataxia 45, MONDO:0033480				29053796;33108146		False	2	0;100;0	4.4	False		ENSG00000086570	ENSG00000086570	HGNC:3596													
PCSK1	gene	PCSK1	Expert review;Expert Review Amber;NHS GMS	Pituitary hormone deficiency		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Obesity with impaired prohormone processing, OMIM:600955;obesity due to prohormone convertase I deficiency, MONDO:0010961;{Obesity, susceptibility to, BMIQ12},OMIM:612362				30383237		False	2	100;0;0	4.4	False		ENSG00000175426	ENSG00000175426	HGNC:8743													
RAX	gene	RAX	Expert review;Expert Review Amber	Pituitary hormone deficiency		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, isolated 3, OMIM:611038;isolated microphthalmia 3, MONDO:0012604				30811539;18783408;14662654		False	2	0;100;0	4.4	False		ENSG00000134438	ENSG00000134438	HGNC:18662													
ROBO1	gene	ROBO1	Expert review;Expert Review Amber;NHS GMS	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303				28402530;31448886;33270637		False	2	100;0;0	4.4	False		ENSG00000169855	ENSG00000169855	HGNC:10249													
SHH	gene	SHH	Expert Review Amber;Radboud University Medical Center;UKGTN	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia with coloboma 5 (611638);Holoprosencephaly 3  (142945)				22897141		False	2	0;0;0	4.4	False		ENSG00000164690	ENSG00000164690	HGNC:10848													
TCF7L1	gene	TCF7L1	Expert Review Amber;Literature	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	No OMIM number;pituitary hormone deficiency				26764381		False	2	100;0;0	4.4	False		ENSG00000152284	ENSG00000152284	HGNC:11640													
TGIF1	gene	TGIF1	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center;UKGTN	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 4,OMIM:142946;holoprosencephaly 4, MONDO:0007734				23476075;34440302		False	2	100;0;0	4.4	False		ENSG00000177426	ENSG00000177426	HGNC:11776