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 HAX1 gene HAX1 Expert Review Green;Radboud University Medical Center, Nijmegen Agranulocytosis Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738 False 3 100;0;0 1.4 True ENSG00000143575 ENSG00000143575 HGNC:16915 TCN2 gene TCN2 Expert Review Green;Literature Agranulocytosis Primary immunodeficiency disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal SCID;Congenital neutropaenia;Combined B and T cell defect;Agranulocytosis;A- or hypo-gammaglobulinaemia;Early onset pancytopenia and red cell disorders;Congenital anaemias;Inherited complement deficiency;intellectual disability;Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. PMID: 24305960; 7980584; 7849710; 20352340; 18956255 False 3 100;0;0 1.4 True ENSG00000185339 ENSG00000185339 HGNC:11653