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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
41	Autosomal recessive congenital ichthyosis 4B (Dec 07, 2023) Autosomal recessive	Skin disorders	ABCA12 ATP binding cassette subfamily A member 12	PubMed	Reports
42	Autosomal recessive osteopetrosis 1 (Jul 20, 2024) Autosomal recessive	Bone disorders	TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	PubMed	Reports
43	Autosomal recessive osteopetrosis 8 (Jul 20, 2024) Autosomal recessive	Bone disorders	SNX10 sorting nexin 10	PubMed	Reports
44	Autosomal recessive Robinow syndrome (Mar 09, 2023) Autosomal recessive	Bone disorders	ROR2 receptor tyrosine kinase like orphan receptor 2	PubMed	Reports
45	Bamforth-Lazarus syndrome (Feb 01, 2024) Autosomal recessive	Endocrine disorders	FOXE1 forkhead box E1	PubMed	Reports
46	Bannayan-Riley-Ruvalcaba syndrome (Mar 09, 2023) Autosomal dominant	Cancer disorders	PTEN phosphatase and tensin homolog	PubMed	Reports
47	Bartter disease type 2 (Jul 20, 2024) Autosomal recessive	Nephrological disorders	KCNJ1 potassium inwardly rectifying channel subfamily J member 1	PubMed	Reports
48	Bartter disease type 5 (Jul 20, 2024) X-linked dominant	Nephrological disorders	MAGED2 MAGE family member D2	PubMed	Reports
49	Becker nevus syndrome (Mar 09, 2023) Somatic mutation	Skin disorders	ACTB actin beta	PubMed	Reports
50	BENTA disease (Mar 09, 2023) Autosomal dominant	Immune disorders	CARD11 caspase recruitment domain family member 11	PubMed	Reports

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