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
191	Developmental and epileptic encephalopathy, 11 Autosomal dominant	Neurodevelopmental disorders	SCN2A sodium voltage-gated channel alpha subunit 2	Reports Updated as of Aug 17, 2026	PubMed
192	Developmental and epileptic encephalopathy, 13 Autosomal dominant	Neurodevelopmental disorders	SCN8A sodium voltage-gated channel alpha subunit 8	Reports Updated as of Aug 17, 2026	PubMed
193	Developmental and epileptic encephalopathy, 35 Autosomal recessive	Neurodevelopmental disorders	ITPA inosine triphosphatase	Reports Updated as of Aug 17, 2026	PubMed
194	Developmental and epileptic encephalopathy, 42 Autosomal dominant	Neurodevelopmental disorders	CACNA1A calcium voltage-gated channel subunit alpha1 A	Reports Updated as of Feb 10, 2026	PubMed
195	Developmental and epileptic encephalopathy, 44 Autosomal recessive	Neurodevelopmental disorders	UBA5 ubiquitin like modifier activating enzyme 5	Reports Updated as of Aug 17, 2026	PubMed
196	Developmental and epileptic encephalopathy, 58 Autosomal dominant	Neurodevelopmental disorders	NTRK2 neurotrophic receptor tyrosine kinase 2	Reports Updated as of Aug 17, 2026	PubMed
197	Developmental and epileptic encephalopathy, 64 Autosomal dominant	Neurodevelopmental disorders	RHOBTB2 Rho related BTB domain containing 2	Reports Updated as of Aug 17, 2026	PubMed
198	Developmental and epileptic encephalopathy, 81 Autosomal recessive	Neurodevelopmental disorders	DMXL2 Dmx like 2	Reports Updated as of Aug 17, 2026	PubMed
199	Developmental and epileptic encephalopathy, 84 Autosomal recessive	Neurodevelopmental disorders	UGDH UDP-glucose 6-dehydrogenase	Reports Updated as of Aug 17, 2026	PubMed
200	Diabetes mellitus, permanent neonatal 4 Autosomal dominant, Autosomal recessive	Metabolic disorders	INS insulin	Reports Updated as of Jan 05, 2026	PubMed

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