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
551	T-B+ severe combined immunodeficiency due to JAK3 deficiency Autosomal recessive	Immune disorders	JAK3 Janus kinase 3	Reports Updated as of Feb 10, 2026	PubMed
552	T-cell large granular lymphocyte leukemia	Blood disorders	STAT3 signal transducer and activator of transcription 3	Reports Updated as of Feb 20, 2024	PubMed
553	Tarsal-carpal coalition syndrome Autosomal dominant	Bone disorders	NOG noggin	Reports Updated as of Feb 01, 2024	PubMed
554	Temtamy syndrome Autosomal recessive	Multisystemic disorders	C12orf57 chromosome 12 open reading frame 57	Reports Updated as of Feb 10, 2026	PubMed
555	Thanatophoric dysplasia Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
556	Thyroid dyshormonogenesis 6 Autosomal recessive	Endocrine disorders	DUOX2 dual oxidase 2	Reports Updated as of Jan 05, 2026	PubMed
557	TNF receptor-associated periodic fever syndrome Autosomal dominant	Immune disorders	TNFRSF1A TNF receptor superfamily member 1A	Reports Updated as of Sep 05, 2023	PubMed
558	Transcobalamin II deficiency Autosomal recessive	Metabolic disorders	TCN2 transcobalamin 2	Reports Updated as of Jan 05, 2026	PubMed
559	Transverse myelitis	Immune disorders	VPS37A VPS37A subunit of ESCRT-I	Reports Updated as of Sep 05, 2023	PubMed
560	Treacher Collins syndrome 1 Autosomal dominant	Bone disorders	TCOF1 treacle ribosome biogenesis factor 1	Reports Updated as of Feb 10, 2026	PubMed

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