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
71	Autosomal recessive spinocerebellar ataxia 17 Autosomal recessive	Neurodegenerative disorders	CWF19L1 CWF19 like cell cycle control factor 1	Reports Updated as of Mar 30, 2026	PubMed
72	Bamforth-Lazarus syndrome Autosomal recessive	Endocrine disorders	FOXE1 forkhead box E1	Reports Updated as of Feb 01, 2024	PubMed
73	Bannayan-Riley-Ruvalcaba syndrome Autosomal dominant	Cancer disorders	PTEN phosphatase and tensin homolog	Reports Updated as of Mar 09, 2023	PubMed
74	Bartter disease type 2 Autosomal recessive	Nephrological disorders	KCNJ1 potassium inwardly rectifying channel subfamily J member 1	Reports Updated as of Jul 20, 2024	PubMed
75	Bartter disease type 5 X-linked dominant	Nephrological disorders	MAGED2 MAGE family member D2	Reports Updated as of Jul 20, 2024	PubMed
76	Becker muscular dystrophy X-linked recessive	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Feb 10, 2026	PubMed
77	Becker nevus syndrome Somatic mutation	Skin disorders	ACTB actin beta	Reports Updated as of Mar 09, 2023	PubMed
78	Benign recurrent intrahepatic cholestasis type 2 Autosomal recessive	Liver disorders	ABCB11 ATP binding cassette subfamily B member 11	Reports Updated as of Feb 10, 2026	PubMed
79	BENTA disease Autosomal dominant	Immune disorders	CARD11 caspase recruitment domain family member 11	Reports Updated as of Mar 09, 2023	PubMed
80	beta Thalassemia Autosomal dominant, Autosomal recessive	Blood disorders	HBB hemoglobin subunit beta	Reports Updated as of Nov 10, 2023	PubMed

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