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
381	Spinocerebellar ataxia type 40 Autosomal dominant	Neurodegenerative disorders	CCDC88C coiled-coil domain containing 88C	Reports Updated as of Apr 17, 2024	PubMed
382	Spinocerebellar ataxia type 42 Autosomal dominant	Neurodegenerative disorders	CACNA1G calcium voltage-gated channel subunit alpha1 G	Reports Updated as of Apr 17, 2024	PubMed
383	Spinocerebellar ataxia type 5 Autosomal dominant	Neurodegenerative disorders	SPTBN2 spectrin beta, non-erythrocytic 2	Reports Updated as of Apr 17, 2024	PubMed
384	Spinocerebellar ataxia type 6 Autosomal dominant	Neurodegenerative disorders	CACNA1A calcium voltage-gated channel subunit alpha1 A	Reports Updated as of Apr 17, 2024	PubMed
385	Spinocerebellar ataxia type 7 Autosomal dominant	Neurodegenerative disorders	ATXN7 ataxin 7	Reports Updated as of Apr 17, 2024	PubMed
386	Spondyloepiphyseal dysplasia with congenital joint dislocations Autosomal recessive	Bone disorders	CHST3 carbohydrate sulfotransferase 3	Reports Updated as of Mar 09, 2023	PubMed
387	Steatocystoma multiplex Autosomal dominant	Skin disorders	KRT17 keratin 17	Reports Updated as of Dec 29, 2023	PubMed
388	Steinert myotonic dystrophy syndrome Autosomal dominant	Neuromuscular disorders	DMPK DM1 protein kinase	Reports Updated as of Nov 30, 2023	PubMed
389	STING-associated vasculopathy with onset in infancy Autosomal dominant	Immune disorders	STING1 stimulator of interferon response cGAMP interactor 1	Reports Updated as of Dec 29, 2023	PubMed
390	Sturge-Weber syndrome Somatic mosaicism	Neuronal disorders	GNAQ G protein subunit alpha q	Reports Updated as of Sep 05, 2023	PubMed

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