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
121	Filippi syndrome (Dec 07, 2023) Autosomal recessive	Bone disorders	CKAP2L cytoskeleton associated protein 2 like	PubMed	Reports
122	Floating-Harbor syndrome (Dec 07, 2023) Autosomal dominant	Bone disorders	SRCAP Snf2 related CREBBP activator protein	PubMed	Reports
123	Focal dermal hypoplasia (Dec 07, 2023) X-linked recessive	Skin disorders	PORCN porcupine O-acyltransferase	PubMed	Reports
124	Fragile X syndrome (Sep 05, 2023) X-linked recessive	Neurodevelopmental disorders	FMR1 fragile X messenger ribonucleoprotein 1	PubMed	Reports
125	Friedreich ataxia (Sep 05, 2023) Autosomal recessive	Neurodegenerative disorders	FXN frataxin	PubMed	Reports
126	Fumarase deficiency (Feb 20, 2024) Autosomal recessive	Metabolic disorders	FH fumarate hydratase	PubMed	Reports
127	Galactose epimerase deficiency (Sep 05, 2023) Autosomal recessive	Metabolic disorders	GALE UDP-galactose-4-epimerase	PubMed	Reports
128	GAPO syndrome (Dec 07, 2023) Autosomal recessive	Developmental / Multisystemic disorders	ANTXR1 ANTXR cell adhesion molecule 1	PubMed	Reports
129	Ghosal hematodiaphyseal dysplasia (Dec 07, 2023) Autosomal recessive	Bone disorders	TBXAS1 thromboxane A synthase 1	PubMed	Reports
130	Glucocorticoid deficiency with achalasia (Dec 29, 2023) Autosomal recessive	Endocrine disorders	AAAS aladin WD repeat nucleoporin	PubMed	Reports

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