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 BIALLELIC, autosomal or pseudoautosomal ?Webb-Dattani syndrome, OMIM:615926 24022475 False 1 0;0;0 3.11 False ENSG00000172379 ENSG00000172379 HGNC:16876 BMP2 gene BMP2 Literature;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency 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 3.11 False ENSG00000125845 ENSG00000125845 HGNC:1069 FOXH1 gene FOXH1 Illumina TruGenome Clinical Sequencing Services Pituitary hormone deficiency Unknown Holoprosencephaly;No OMIM number False 1 0;0;0 3.11 False ENSG00000160973 ENSG00000160973 HGNC:3814 GHRH gene GHRH Illumina TruGenome Clinical Sequencing Services;Literature Pituitary hormone deficiency Unknown ?Isolated growth hormone deficiency due to defect in GHRF;No OMIM number 15155578 False 1 0;0;0 3.11 False ENSG00000118702 ENSG00000118702 HGNC:4265 GPR161 gene GPR161 Literature Pituitary hormone deficiency BIALLELIC, autosomal or pseudoautosomal pituitary stalk interruption syndrome, MONDO:0019828 25322266 False 1 0;0;0 3.11 False ENSG00000143147 ENSG00000143147 HGNC:23694 HHIP gene HHIP Literature Pituitary hormone deficiency Unknown No OMIM number False 1 0;0;0 3.11 False ENSG00000164161 ENSG00000164161 HGNC:14866 HNRNPU gene HNRNPU Radboud University Medical Center Pituitary hormone deficiency MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 54 (617391) False 1 0;0;0 3.11 False ENSG00000153187 ENSG00000153187 HGNC:5048 IFT172 gene IFT172 Expert review Pituitary hormone deficiency BIALLELIC, autosomal or pseudoautosomal retinopathy, metaphyseal dysplasia 25664603 False 1 0;0;0 3.11 False ENSG00000138002 ENSG00000138002 HGNC:30391 L1CAM gene L1CAM Expert review Pituitary hormone deficiency 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 3.11 False ENSG00000198910 ENSG00000198910 HGNC:6470 MAGEL2 gene MAGEL2 Expert review;Expert Review Red;NHS GMS Pituitary hormone deficiency 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 3.11 False ENSG00000254585 ENSG00000254585 HGNC:6814 NKX2-1 gene NKX2-1 Expert review;Expert Review Red Pituitary hormone deficiency 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 3.11 False ENSG00000136352 ENSG00000136352 HGNC:11825 NODAL gene NODAL Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly;Heterotaxy, visceral, 5 (270100) False 1 0;0;0 3.11 False ENSG00000156574 ENSG00000156574 HGNC:7865 PAX6 gene PAX6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aniridia (106210) 25342853 False 1 0;0;0 3.11 False ENSG00000007372 ENSG00000007372 HGNC:8620 POLR3A gene POLR3A Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) False 1 0;0;0 3.11 False ENSG00000148606 ENSG00000148606 HGNC:30074 PSTPIP1 gene PSTPIP1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 False 1 0;0;0 3.11 False ENSG00000140368 ENSG00000140368 HGNC:9580 PTCH1 gene PTCH1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN Pituitary hormone deficiency MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 7, OMIM:610828 11941477 False 1 0;0;0 3.11 False ENSG00000185920 ENSG00000185920 HGNC:9585 RBM28 gene RBM28 Radboud University Medical Center Pituitary hormone deficiency BIALLELIC, autosomal or pseudoautosomal ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079);ANE syndrome 20231366 False 1 0;0;100 3.11 False ENSG00000106344 ENSG00000106344 HGNC:21863 SIX3 gene SIX3 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Pituitary hormone deficiency MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 2, OMIM:157170;alobar holoprosencephaly, MONDO:0019757 35951005;34974160;32796691;25915183 False 1 0;0;100 3.11 False ENSG00000138083 ENSG00000138083 HGNC:10889 SLC15A4 gene SLC15A4 Literature Pituitary hormone deficiency Unknown No OMIM number 29261175 False 1 0;0;0 3.11 False ENSG00000139370 ENSG00000139370 HGNC:23090 SLC20A1 gene SLC20A1 Literature Pituitary hormone deficiency Unknown No OMIM number False 1 0;0;0 3.11 False ENSG00000144136 ENSG00000144136 HGNC:10946 WDR11 gene WDR11 Radboud University Medical Center Pituitary hormone deficiency 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 3.11 False ENSG00000120008 ENSG00000120008 HGNC:13831 ZIC2 gene ZIC2 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Pituitary hormone deficiency MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 5 (609637) 24706429 False 1 0;0;0 3.11 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZSWIM6 gene ZSWIM6 Radboud University Medical Center Pituitary hormone deficiency 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 3.11 False ENSG00000130449 ENSG00000130449 HGNC:29316