Table 2 RefSeq protein-coding genes in a 20.88-Mb Duplicated Region at 6p25.3-p22.3 in the present patient
Gene symbol | OMIM ID | Associated diseases | Inheritance |
|---|---|---|---|
ATXN1 | 601,556 | Spinocerebellar ataxia 1 | AD |
BLOC1S5 | 607,289 | Hermansky-Pudlak syndrome 11 | AR |
DSP | 125,647 | Arrhythmogenic right ventricular dysplasia 8 | AD |
Cardiomyopathy, dilated, with woolly hair and keratoderma | AR | ||
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AD | ||
Epidermolysisbullosa, lethal acantholytic | AR | ||
Keratosis palmoplantarisstriata II | AD | ||
Skin fragility-woolly hair syndrome | |||
DTNBP1 | 607,145 | Hermansky-Pudlak syndrome 7 | AR |
EDN1 | 131,240 | Auriculocondylar syndrome 3 | AR |
Question mark ears, isolated | AD | ||
{High density lipoprotein cholesterol level QTL 7} | |||
F13A1 | 134,570 | Factor XIIIA deficiency | AR |
{Myocardial infarction, protection against} | – | ||
{Venous thrombosis, protection against} | AD | ||
FARS2 | 611,592 | Combined oxidative phosphorylation deficiency 14 | AR |
Spastic paraplegia 77, autosomal recessive | AR | ||
FOXC1 | 601,090 | Anterior segment dysgenesis 3, multiple subtypes | AD |
Axenfeld-Rieger syndrome, type 3 | AD | ||
GCM2 | 603,716 | Hyperparathyroidism 4 | AD |
Hypoparathyroidism, familial isolated 2 | AD, AR | ||
GCNT2 | 600,429 | Adult i phenotype without cataract | AD |
Cataract 13 with adult i phenotype | AR | ||
[Blood group, Ii] | AD | ||
LYRM4 | 613,311 | ?Combined oxidative phosphorylation deficiency 19 | AR |
MAK | 154,235 | Retinitis pigmentosa 62 | AR |
NHLRC1 | 608,072 | Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NQO2 | 160,998 | {?Breast cancer susceptibility} | AD, Smu |
PHACTR1 | 608,723 | Developmental and epileptic encephalopathy 70 | AD |
RIPK1 | 603,453 | Autoinflammation with episodic fever and lymphadenopathy | AD |
Immunodeficiency 57 with autoinflammation | AR | ||
SERPINB6 | 173,321 | ?Deafness, autosomal recessive 91 | AR |
SOX4 | 184,430 | Coffin-Siris syndrome 10 | AD |
TBC1D7 | 612,655 | Macrocephaly/megalencephaly syndrome, autosomal recessive | AR |
TFAP2A | 107,580 | Branchiooculofacial syndrome | AD |
TPMT | 187,680 | {Thiopurines, poor metabolism of, 1} | AR |
TUBB2A | 615,101 | Cortical dysplasia, complex, with other brain malformations 5 | AD |
TUBB2B | 612,850 | Cortical dysplasia, complex, with other brain malformations 7 | AD |