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;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	?Webb-Dattani syndrome (615926)			Hypopituitarism;HP:0040075	24022475		False	1	0;0;0	0.35	False		ENSG00000172379	ENSG00000172379	HGNC:16876													
BMP2	gene	BMP2	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)			Hypopituitarism;HP:0040075	24289245		False	1	0;0;0	0.35	False		ENSG00000125845	ENSG00000125845	HGNC:1069													
BMP4	gene	BMP4	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia, syndromic 6 (607932)			Hypopituitarism;HP:0040075	24289245		False	1	0;0;0	0.35	False		ENSG00000125378	ENSG00000125378	HGNC:1071													
FOXH1	gene	FOXH1	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	Unknown	Holoprosencephaly;No OMIM number			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000160973	ENSG00000160973	HGNC:3814													
GHRH	gene	GHRH	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	Unknown	No OMIM number;?Isolated growth hormone deficiency due to defect in GHRF			Hypopituitarism;HP:0040075	15155578		False	1	0;0;0	0.35	False		ENSG00000118702	ENSG00000118702	HGNC:4265													
GPR161	gene	GPR161	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	Unknown	No OMIM number;pituitary stalk interruption syndrome			Hypopituitarism;HP:0040075	25322266		False	1	0;0;0	0.35	False		ENSG00000143147	ENSG00000143147	HGNC:23694													
HHIP	gene	HHIP	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	Unknown	No OMIM number			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000164161	ENSG00000164161	HGNC:14866													
HNRNPU	gene	HNRNPU	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 54 (617391)			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000153187	ENSG00000153187	HGNC:5048													
NODAL	gene	NODAL	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly;Heterotaxy, visceral, 5 (270100)			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000156574	ENSG00000156574	HGNC:7865													
PAX6	gene	PAX6	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aniridia (106210)			Hypopituitarism;HP:0040075	25342853		False	1	0;0;0	0.35	False		ENSG00000007372	ENSG00000007372	HGNC:8620													
POLR3A	gene	POLR3A	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000148606	ENSG00000148606	HGNC:30074													
PSTPIP1	gene	PSTPIP1	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly;Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000140368	ENSG00000140368	HGNC:9580													
PTCH1	gene	PTCH1	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 7 (610828)			Hypopituitarism;HP:0040075	11941477		False	1	0;0;0	0.35	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
SIX3	gene	SIX3	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 2 (157170);Non-acquired combined pituitary hormone deficiency MONDO:0018762			Hypopituitarism;HP:0040075	35951005		False	1	0;0;100	0.35	True		ENSG00000138083	ENSG00000138083	HGNC:10889													
SLC15A4	gene	SLC15A4	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	Unknown	No OMIM number			Hypopituitarism;HP:0040075	29261175		False	1	0;0;0	0.35	False		ENSG00000139370	ENSG00000139370	HGNC:23090													
SLC20A1	gene	SLC20A1	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	Unknown	No OMIM number			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000144136	ENSG00000144136	HGNC:10946													
TGIF1	gene	TGIF1	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 4 (142946)			Hypopituitarism;HP:0040075	23476075		False	1	0;0;0	0.35	False		ENSG00000177426	ENSG00000177426	HGNC:11776													
WDR11	gene	WDR11	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypogonadotropic hypogonadism 14 with or without anosmia (614858)			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000120008	ENSG00000120008	HGNC:13831													
ZIC2	gene	ZIC2	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 5 (609637)			Hypopituitarism;HP:0040075	24706429		False	1	0;0;0	0.35	False		ENSG00000043355	ENSG00000043355	HGNC:12873													
ZSWIM6	gene	ZSWIM6	Expert Review Red;Genomics England PanelApp	Pituitary hormone deficiency		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865);Acromelic frontonasal dysostosis (603671)			Hypopituitarism;HP:0040075			False	1	0;0;0	0.35	False		ENSG00000130449	ENSG00000130449	HGNC:29316