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 AKR1C2 gene AKR1C2 Expert list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 46XY sex reversal 8 614279 False 1 0;0;100 4.4 False ENSG00000151632 ENSG00000151632 HGNC:385 ATP6V0A4 gene ATP6V0A4 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 False 1 0;0;100 4.4 False ENSG00000105929 ENSG00000105929 HGNC:866 CBX2 gene CBX2 Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Gender Assignment Gene Panel (UKGTN); 46XY sex reversal 5, 613080 23219007;19361780 False 1 0;0;100 4.4 False ENSG00000173894 ENSG00000173894 HGNC:1552 DGKQ gene DGKQ Expert Review Red;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders Unknown False 1 0;0;100 4.4 False ENSG00000145214 ENSG00000145214 HGNC:2856 DMRT1 gene DMRT1 Expert Review Red;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders Unknown Gender Assignment Gene Panel (UKGTN) 26139570 False 1 0;0;100 4.4 False ENSG00000137090 ENSG00000137090 HGNC:2934 ERAL1 gene ERAL1 Literature Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6 617565" 28449065 False 1 0;0;100 4.4 False ENSG00000132591 ENSG00000132591 HGNC:3424 GLI2 gene GLI2 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Culler-Jones syndrome, 615849;Holoprosencephaly-9, 610829 False 1 0;0;0 4.4 False ENSG00000074047 ENSG00000074047 HGNC:4318 HSD17B2 gene HSD17B2 Expert Review Red;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders Unknown Gender Assignment Gene Panel (UKGTN) False 1 0;0;100 4.4 False ENSG00000086696 ENSG00000086696 HGNC:5211 INPP5E gene INPP5E Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 19668215 False 1 0;0;0 4.4 False ENSG00000148384 ENSG00000148384 HGNC:21474 MCM5 gene MCM5 Literature Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "?Meier-Gorlin syndrome 8 617564" 28198391 False 1 0;0;100 4.4 False ENSG00000100297 ENSG00000100297 HGNC:6948 PAX6 gene PAX6 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN Disorders of sex development Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Not relevant to this panel False 1 0;0;0 4.4 False ENSG00000007372 ENSG00000007372 HGNC:8620 SEMA3E gene SEMA3E Expert list;Radboud University Medical Center, Nijmegen Disorders of sex development Gonadal and sex development disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "CHARGE syndrome 214800" 15235037 False 1 0;0;0 4.4 False ENSG00000170381 ENSG00000170381 HGNC:10727 TAF4B gene TAF4B Expert Review Red;Other Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 13 615841 24431330 False 1 0;0;100 4.4 False ENSG00000141384 ENSG00000141384 HGNC:11538 TWIST2 gene TWIST2 Radboud University Medical Center, Nijmegen Disorders of sex development Gonadal and sex development disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Barber-Say syndrome 209885;Focal facial dermal dysplasia 3, Setleis type 227260" 26119818 False 1 0;0;0 4.4 False ENSG00000233608 ENSG00000233608 HGNC:20670 WNT2B gene WNT2B Literature Disorders of sex development Gonadal and sex development disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 9, OMIM:618168;46,XX testicular disorder of sex development, MONDO:0100249 29909964;33526876 False 1 0;0;100 4.4 False ENSG00000134245 ENSG00000134245 HGNC:12781