Table 2 Genes in the region of 10q26.12qter and the associated diseases
Genes | Location | OMIM | Description | DDG2P | %HI | pLI | Diseases |
|---|---|---|---|---|---|---|---|
SYCE1 | 10:135367404–135382876 | 611486 | Synaptonemal complex central element protein 1 | NA | 74.27 | 0.00 | Premature ovarian failure, Spermatogenic failure |
ECHS1 | 10:135175984–135187193 | 617817 | Enoyl-CoA hydratase, short chain 1 | Confirmed: Biallelic | 61.36 | 0.00 | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
TUBGCP2 | 10:135093135–135125841 | 618737 | Tubulin gamma complex associated protein 2 | Probable: Biallelic | 45.69 | 0.00 | NA |
NKX6-2 | 10:134598297–134599556 | 605955 | NK6 homeobox 2 | Probable: Biallelic | 53.68 | 0.03 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
EBF3 | 10:131633547–131762105 | 607407 | EBF transcription factor 3 | Confirmed: Monoallelic | 3.89 | 1.00 | Hypotonia, ataxia, and delayed development syndrome |
UROS | 10:127477146–127511817 | 606938 | Uroporphyrinogen III synthase | Confirmed: Biallelic | 69.16 | 0.03 | Porphyria, congenital erythropoietic |
MMP21 | 10:127455022–127464390 | 608416 | Matrix metallopeptidase 21 | Confirmed: Biallelic | 82.02 | 0.00 | Visceral heterotaxy, 7, autosomal |
OAT | 10:126085872–126107545 | 613349 | Ornithine aminotransferase | NA | 31.64 | 0.00 | Gyrate atrophy of choroid and retina with or without ornithinemia |
ACADSB | 10:124768495–124817827 | 600301 | Acyl-CoA dehydrogenase short/branched chain | NA | 65.42 | 0.00 | NA |
IKZF5 | 10:122990805–123008825 | 619130 | IKAROS family zinc finger 5 | NA | 23.98 | 0.78 | Thrombocytopenia |
HTRA1 | 10:124221041–124274424 | 602194 | HtrA serine peptidase 1 | NA | 19.96 | 0.00 | Macular degeneration, age-related, neovascular type; Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy, type 2 |
ARMS2 | 10:124214169–124216868 | 613778 | Age-related maculopathy susceptibility 2 | NA | 97.47 | 0.00 | Macular degeneration, age-related, 8 |
FGFR2 | 10:123237848–123357972 | 176943 | Fibroblast growth factor receptor 2 | Confirmed: Monoallelic | 0.50 | 1.00 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Apert syndrome; Beare-Stevenson cutis gyrata syndrome; Bent bone dysplasia syndrome; Craniofacial-skeletal-dermatologic dysplasia; Scaphocephaly, maxillary retrusion, and mental retardation |
WDR11 | 10:122610687–122669036 | 606417 | WD repeat domain 11 | Confirmed: Monoallelic | 39.49 | 0.00 | Hypogonadotropic hypogonadism with or without anosmia, cardiac anomaly and growth retardation |