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 ABALON gene ABALON Expert Review Green;Illumina TruGenome Clinical Sequencing Services Test panel name MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 3.54 True - ENSG00000281376 HGNC:49667 HTRA1 gene HTRA1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;test source 1;test source 2;UKGTN Test panel name BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779;CARASIL syndrome 600142;new phenotype 1;new phenotype 2 19387015;32086611;32086639 False 3 0;0;0 3.54 False ENSG00000166033 ENSG00000166033 HGNC:9476 KALRN gene KALRN Expert list;Expert Review Amber Test panel name BOTH monoallelic and biallelic, autosomal or pseudoautosomal test updating phenotype False 2 100;0;0 3.54 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160145 ENSG00000160145 HGNC:4814 PRSS2 gene PRSS2 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Test panel name BIALLELIC, autosomal or pseudoautosomal False 2 0;0;0 3.54 False - ENSG00000275896 HGNC:9483 SLC10A4 gene SLC10A4 Expert list;Expert Review Amber Test panel name MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 2 0;0;0 3.54 False ENSG00000145248 ENSG00000145248 HGNC:22980