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
101	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY Autosomal dominant	Multisystemic disorders	FAR1 fatty acyl-CoA reductase 1	Reports Updated as of Feb 10, 2026	PubMed
102	CEDNIK syndrome Autosomal recessive	Skin disorders	SNAP29 synaptosome associated protein 29	Reports Updated as of Nov 30, 2023	PubMed
103	Central core myopathy Autosomal dominant	Neuromuscular disorders	RYR1 ryanodine receptor 1	Reports Updated as of Nov 30, 2023	PubMed
104	Cerebellar ataxia-hypogonadism syndrome Autosomal recessive	Multisystemic disorders	RNF216 ring finger protein 216	Reports Updated as of Feb 01, 2025	PubMed
105	Cerebrooculofacioskeletal syndrome 2 Autosomal recessive	Multisystemic disorders	ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit	Reports Updated as of Feb 26, 2025	PubMed
106	Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant	Neuromuscular disorders	HSPB1 heat shock protein family B (small) member 1	Reports Updated as of Jun 12, 2025	PubMed
107	Charcot-Marie-Tooth disease axonal type 2S Autosomal recessive	Neuromuscular disorders	IGHMBP2 immunoglobulin mu DNA binding protein 2	Reports Updated as of Jun 12, 2025	PubMed
108	Charcot-Marie-Tooth disease type 4C Autosomal recessive	Neuromuscular disorders	SH3TC2 SH3 domain and tetratricopeptide repeats 2	Reports Updated as of Jun 12, 2025	PubMed
109	Charcot-Marie-Tooth disease type 4D Autosomal recessive	Neuromuscular disorders	NDRG1 N-myc downstream regulated 1	Reports Updated as of Jun 12, 2025	PubMed
110	Charcot-Marie-Tooth disease type 4F Autosomal recessive	Neuromuscular disorders	PRX periaxin	Reports Updated as of Jun 12, 2025	PubMed

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