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
161	GNE myopathy Autosomal dominant, Autosomal recessive	Neuromuscular disorders	GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Reports Updated as of Mar 09, 2023	PubMed
162	Gollop-Wolfgang complex Autosomal dominant, Autosomal recessive	Bone disorders	BHLHA9 basic helix-loop-helix family member a9	Reports Updated as of Dec 29, 2023	PubMed
163	Goodpasture syndrome	Immune disorders	COL4A3 collagen type IV alpha 3 chain	Reports Updated as of Mar 09, 2023	PubMed
164	Gray platelet syndrome Autosomal recessive	Blood disorders	NBEAL2 neurobeachin like 2	Reports Updated as of Dec 07, 2023	PubMed
165	Grebe syndrome Autosomal recessive	Bone disorders	GDF5 growth differentiation factor 5	Reports Updated as of Feb 04, 2025	PubMed
166	Greig cephalopolysyndactyly syndrome Autosomal dominant	Bone disorders	GLI3 GLI family zinc finger 3	Reports Updated as of Dec 07, 2023	PubMed
167	Guillain-Barre syndrome	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Nov 30, 2023	PubMed
168	H syndrome Autosomal recessive	Skin disorders	SLC29A3 solute carrier family 29 member 3	Reports Updated as of Dec 07, 2023	PubMed
169	Haim-Munk syndrome Autosomal recessive	Skin disorders	CTSC cathepsin C	Reports Updated as of Dec 07, 2023	PubMed
170	Hajdu-Cheney syndrome Autosomal dominant	Bone disorders	NOTCH2 notch receptor 2	Reports Updated as of May 24, 2023	PubMed

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