GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
581	Spinocerebellar ataxia type 16 Autosomal recessive	Neurodegenerative disorders	ITPR1 inositol 1,4,5-trisphosphate receptor type 1	Reports Updated as of Apr 17, 2024	PubMed
582	Spinocerebellar ataxia type 17 Autosomal dominant	Neurodegenerative disorders	TBP TATA-box binding protein	Reports Updated as of Apr 17, 2024	PubMed
583	Spinocerebellar ataxia type 18 Autosomal dominant	Neurodegenerative disorders	IFRD1 interferon related developmental regulator 1	Reports Updated as of Apr 17, 2024	PubMed
584	Spinocerebellar ataxia type 2 Autosomal dominant	Neurodegenerative disorders	ATXN2 ataxin 2	Reports Updated as of Apr 17, 2024	PubMed
585	Spinocerebellar ataxia type 20 Autosomal dominant	Neurodegenerative disorders	SNX14 sorting nexin 14	Reports Updated as of Apr 17, 2024	PubMed
586	Spinocerebellar ataxia type 21 Autosomal dominant	Neurodegenerative disorders	TMEM240 transmembrane protein 240	Reports Updated as of Apr 17, 2024	PubMed
587	Spinocerebellar ataxia type 27 Autosomal dominant	Neurodegenerative disorders	FGF14 fibroblast growth factor 14	Reports Updated as of Jul 20, 2024	PubMed
588	Spinocerebellar ataxia type 28 Autosomal dominant	Neurodegenerative disorders	AFG3L2 AFG3 like matrix AAA peptidase subunit 2	Reports Updated as of Apr 17, 2024	PubMed
589	Spinocerebellar ataxia type 3 Autosomal recessive	Neurodegenerative disorders	ATXN3 ataxin 3	Reports Updated as of Apr 17, 2024	PubMed
590	Spinocerebellar ataxia type 34 Autosomal dominant	Neurodegenerative disorders	ELOVL4 ELOVL fatty acid elongase 4	Reports Updated as of Apr 17, 2024	PubMed

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