List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
View information by Inheritance Mode
S.No. | Genetic Disorders (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
321 | Spinocerebellar ataxia type 20 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
SNX14 sorting nexin 14 |
PubMed | Reports |
322 | Spinocerebellar ataxia type 21 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
TMEM240 transmembrane protein 240 |
PubMed | Reports |
323 | Spinocerebellar ataxia type 27 (Jul 20, 2024) Autosomal dominant |
Neurodegenerative disorders |
FGF14 fibroblast growth factor 14 |
PubMed | Reports |
324 | Spinocerebellar ataxia type 28 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
AFG3L2 AFG3 like matrix AAA peptidase subunit 2 |
PubMed | Reports |
325 | Spinocerebellar ataxia type 3 (Apr 17, 2024) Autosomal recessive |
Neurodegenerative disorders |
ATXN3 ataxin 3 |
PubMed | Reports |
326 | Spinocerebellar ataxia type 34 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
ELOVL4 ELOVL fatty acid elongase 4 |
PubMed | Reports |
327 | Spinocerebellar ataxia type 35 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
TGM6 transglutaminase 6 |
PubMed | Reports |
328 | Spinocerebellar ataxia type 40 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
CCDC88C coiled-coil domain containing 88C |
PubMed | Reports |
329 | Spinocerebellar ataxia type 42 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
CACNA1G calcium voltage-gated channel subunit alpha1 G |
PubMed | Reports |
330 | Spinocerebellar ataxia type 5 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
SPTBN2 spectrin beta, non-erythrocytic 2 |
PubMed | Reports |