Prepair 500+
Gene: POMT1
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
Gene: pomt1 has been classified as Green List (High Evidence).
Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) to Myopathy caused by variation in POMT1 MONDO:0700070
Publications for gene: POMT1 were set to
gene: POMT1 was added gene: POMT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)