GenTIGS

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 Modes of inheritance	Category	Gene symbol	Indian context	Links
431	Spinocerebellar ataxia type 28 Autosomal dominant	Neurodegenerative disorders	AFG3L2 AFG3 like matrix AAA peptidase subunit 2	Reports Updated as of Apr 17, 2024	PubMed
432	Spinocerebellar ataxia type 3 Autosomal recessive	Neurodegenerative disorders	ATXN3 ataxin 3	Reports Updated as of Apr 17, 2024	PubMed
433	Spinocerebellar ataxia type 34 Autosomal dominant	Neurodegenerative disorders	ELOVL4 ELOVL fatty acid elongase 4	Reports Updated as of Apr 17, 2024	PubMed
434	Spinocerebellar ataxia type 35 Autosomal dominant	Neurodegenerative disorders	TGM6 transglutaminase 6	Reports Updated as of Apr 17, 2024	PubMed
435	Spinocerebellar ataxia type 40 Autosomal dominant	Neurodegenerative disorders	CCDC88C coiled-coil domain containing 88C	Reports Updated as of Apr 17, 2024	PubMed
436	Spinocerebellar ataxia type 42 Autosomal dominant	Neurodegenerative disorders	CACNA1G calcium voltage-gated channel subunit alpha1 G	Reports Updated as of Apr 17, 2024	PubMed
437	Spinocerebellar ataxia type 5 Autosomal dominant	Neurodegenerative disorders	SPTBN2 spectrin beta, non-erythrocytic 2	Reports Updated as of Apr 17, 2024	PubMed
438	Spinocerebellar ataxia type 6 Autosomal dominant	Neurodegenerative disorders	CACNA1A calcium voltage-gated channel subunit alpha1 A	Reports Updated as of Apr 17, 2024	PubMed
439	Spinocerebellar ataxia type 7 Autosomal dominant	Neurodegenerative disorders	ATXN7 ataxin 7	Reports Updated as of Apr 17, 2024	PubMed
440	Spinocerebellar ataxia type 8 Autosomal dominant	Neurodegenerative disorders	ATXN8OS ATXN8 opposite strand lncRNA	Reports Updated as of Apr 17, 2024	PubMed

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