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 AGPS gene AGPS Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Chondrodysplasia punctata Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, 600121 False 3 100;0;0 1.5 True ENSG00000018510 ENSG00000018510 HGNC:327 ARSE gene ARSE Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Chondrodysplasia punctata Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive, 302950;X-linked recessive chondrodysplasia punctata;CHONDRODYSPLASIA PUNCTATA 1, X-LINKED False 3 100;0;0 1.5 True ENSG00000157399 ENSG00000157399 HGNC:719 EBP gene EBP Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Chondrodysplasia punctata Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chondrodysplasia punctata, X-linked dominant, 302960;X-linked dominant chondrodysplasia punctata;MEND syndrome False 3 100;0;0 1.5 True ENSG00000147155 ENSG00000147155 HGNC:3133 GNPAT gene GNPAT Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Chondrodysplasia punctata Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic Chondrodysplasia Punctata;Chondrodysplasia punctata, rhizomelic, type 2, 222765;Rhizomelic chondrodysplasia punctata type 2 False 3 100;0;0 1.5 True ENSG00000116906 ENSG00000116906 HGNC:4416 PEX7 gene PEX7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Chondrodysplasia punctata Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, OMIM:614879;Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100 False 3 100;0;0 1.5 True ENSG00000112357 ENSG00000112357 HGNC:8860