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Gene: POMT1

Green List (high evidence)

Well established gene and disease association. Spectrum of disease encompasses phenotypes including severe forms e.g. Walker-Warburg syndrome and congenital muscular dystrophy with or without intellectual disability, and milder forms of limb-girdle muscular dystrophy with or without intellectual disability. LGMD patients often show an elevated serum creatine kinase and progressive muscle weakness. Congenital onset, with variable disease severity. Severe end of disease spectrum can present prenatally with microphthalmia.
Animal models, functional studies and expression studies are present.

Clingen Lumping: no difference in molecular mechanism(s) AND inheritance pattern AND phenotypic variability in disease entities Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 MIM#613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308. Therefore, all of the disease entities lumped into one disease entity, using the term, POMT1-related myopathies.

Created: 9 Dec 2024, 12:40 a.m. | Last Modified: 9 Dec 2024, 12:40 a.m.

Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy caused by variation in POMT1 MONDO:0700070

Publications

• 15792865
• 22549409
• 31311558
• 20065251
• 25088310
• 19299310
• 19299310