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 Red;Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	?Webb-Dattani syndrome, OMIM:615926				24022475		False	1	0;0;0	4.4	False		ENSG00000172379	ENSG00000172379	HGNC:16876													
BMP2	gene	BMP2	Literature;Radboud University Medical Center, Nijmegen	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)				24289245		False	1	0;0;0	4.4	False		ENSG00000125845	ENSG00000125845	HGNC:1069													
FOXH1	gene	FOXH1	Illumina TruGenome Clinical Sequencing Services	Pituitary hormone deficiency		Endocrinology	Unknown	Holoprosencephaly;No OMIM number						False	1	0;0;0	4.4	False		ENSG00000160973	ENSG00000160973	HGNC:3814													
GHRH	gene	GHRH	Illumina TruGenome Clinical Sequencing Services;Literature	Pituitary hormone deficiency		Endocrinology	Unknown	?Isolated growth hormone deficiency due to defect in GHRF;No OMIM number				15155578		False	1	0;0;0	4.4	False		ENSG00000118702	ENSG00000118702	HGNC:4265													
GPR161	gene	GPR161	Literature	Pituitary hormone deficiency		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	pituitary stalk interruption syndrome, MONDO:0019828				25322266		False	1	0;0;0	4.4	False		ENSG00000143147	ENSG00000143147	HGNC:23694													
HHIP	gene	HHIP	Literature	Pituitary hormone deficiency		Endocrinology	Unknown	No OMIM number						False	1	0;0;0	4.4	False		ENSG00000164161	ENSG00000164161	HGNC:14866													
HNRNPU	gene	HNRNPU	Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 54 (617391)						False	1	0;0;0	4.4	False		ENSG00000153187	ENSG00000153187	HGNC:5048													
IFT172	gene	IFT172	Expert review	Pituitary hormone deficiency		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	retinopathy, metaphyseal dysplasia				25664603		False	1	0;0;0	4.4	False		ENSG00000138002	ENSG00000138002	HGNC:30391													
L1CAM	gene	L1CAM	Expert review	Pituitary hormone deficiency		Endocrinology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	CRASH syndrome, OMIM:303350;MASA syndrome, OMIM:303350				31504653		False	1	0;0;0	4.4	False		ENSG00000198910	ENSG00000198910	HGNC:6470													
MAGEL2	gene	MAGEL2	Expert review;Expert Review Red;NHS GMS	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Schaaf-Yang syndrome, OMIM:615547;Schaaf-Yang syndrome, MONDO:0014243				31504653;29359444;30323850		False	1	0;0;0	4.4	False		ENSG00000254585	ENSG00000254585	HGNC:6814													
NKX2-1	gene	NKX2-1	Expert review;Expert Review Red	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978;brain-lung-thyroid syndrome, MONDO:0012593				31707387		False	1	0;0;0	4.4	False		ENSG00000136352	ENSG00000136352	HGNC:11825													
NODAL	gene	NODAL	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly;Heterotaxy, visceral, 5 (270100)						False	1	0;0;0	4.4	False		ENSG00000156574	ENSG00000156574	HGNC:7865													
PAX6	gene	PAX6	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aniridia (106210)				25342853		False	1	0;0;0	4.4	False		ENSG00000007372	ENSG00000007372	HGNC:8620													
POLR3A	gene	POLR3A	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)						False	1	0;0;0	4.4	False		ENSG00000148606	ENSG00000148606	HGNC:30074													
PSTPIP1	gene	PSTPIP1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416						False	1	0;0;0	4.4	False		ENSG00000140368	ENSG00000140368	HGNC:9580													
PTCH1	gene	PTCH1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 7, OMIM:610828				11941477		False	1	0;0;0	4.4	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
RBM28	gene	RBM28	Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	?Alopecia, neurologic defects, and endocrinopathy syndrome (612079);ANE syndrome				20231366		False	1	0;0;100	4.4	False		ENSG00000106344	ENSG00000106344	HGNC:21863													
SIX3	gene	SIX3	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 2, OMIM:157170;alobar holoprosencephaly, MONDO:0019757				35951005;34974160;32796691;25915183		False	1	0;0;100	4.4	False		ENSG00000138083	ENSG00000138083	HGNC:10889													
SLC15A4	gene	SLC15A4	Literature	Pituitary hormone deficiency		Endocrinology	Unknown	No OMIM number				29261175		False	1	0;0;0	4.4	False		ENSG00000139370	ENSG00000139370	HGNC:23090													
SLC20A1	gene	SLC20A1	Literature	Pituitary hormone deficiency		Endocrinology	Unknown	No OMIM number						False	1	0;0;0	4.4	False		ENSG00000144136	ENSG00000144136	HGNC:10946													
WDR11	gene	WDR11	Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM:614858;hypogonadotropic hypogonadism 14 with or without anosmia, MONDO:0013926				28453858;20887964;34413497;28453858		False	1	0;0;100	4.4	False		ENSG00000120008	ENSG00000120008	HGNC:13831													
ZIC2	gene	ZIC2	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 5 (609637)				24706429		False	1	0;0;0	4.4	False		ENSG00000043355	ENSG00000043355	HGNC:12873													
ZSWIM6	gene	ZSWIM6	Radboud University Medical Center	Pituitary hormone deficiency		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acromelic frontonasal dysostosis (603671);Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)						False	1	0;0;0	4.4	False		ENSG00000130449	ENSG00000130449	HGNC:29316