Location (from NCBI, GRCh38) |
Gene/Locus | Gene/Locus name |
Gene/Locus MIM number |
Phenotype |
Phenotype MIM number |
Inheritance |
Pheno map key |
Comments |
Mouse symbol (from MGI) |
---|---|---|---|---|---|---|---|---|---|
18:11,882,622-11,908,317
18p11.21 |
MPPE1 | Metallophosphoesterase 1 | 611900 | Mppe1 | |||||
18:11,981,507-12,030,877
18p11.21 |
IMPA2 | Myo-inositol monophosphatase 2 | 605922 | Impa2 | |||||
18:12,254,361-12,277,595
18p11.21 |
CIDEA | Cell death-inducing DFFA-like effector A | 604440 | Cidea | |||||
18:12,307,669-12,329,826
18p11.21 |
TUBB6, FPVEPD | Tubulin, beta-6 | 615103 | ?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | 617732 | Autosomal dominant | 3 | mutation identified in 1 FPVEPD family | Tubb6 |
18:12,328,944-12,377,227
18p11.21 |
AFG3L2, SCA28, SPAX5, OPA12 | AFG3-like matrix AAA peptidase, subunit 2 | 604581 | Optic atrophy 12 | 618977 | Autosomal dominant | 3 | Afg3l2 | |
Spastic ataxia 5, autosomal recessive | 614487 | Autosomal recessive | 3 | ||||||
Spinocerebellar ataxia 28 | 610246 | Autosomal dominant | 3 | ||||||
18:12,407,929-12,432,238
18p11.21 |
PRELID3A, SLMO1, C18orf43 | PRELI domain-containing protein 3A | 616545 | Prelid3a | |||||
18:12,446,512-12,662,091
18p11.21 |
SPIRE1, KIAA1135 | Spire-type actin nucleation factor 1 | 609216 | Spire1 | |||||
18:12,658,738-12,725,740
18p11.21 |
PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2, PRAAS4 | Proteasome (prosome, macropain) assembly chaperone 1 | 609702 | ?Proteasome-associated autoinflammatory syndrome 4 | 619183 | Autosomal recessive | 3 | mutation identified in 1 PRAAS4 patient | Psmg2 |
18:12,661,956-12,702,777
18p11.21 |
CEP76 | Centrosomal protein, 76kD | 620791 | Cep76 | |||||
18:12,785,478-12,884,237
18p11.21 |
PTPN2, PTPT | Protein tyrosine phosphatase, nonreceptor-type, 2 | 176887 | Ptpn2 |