rs886044567

This variant is located in the POMGNT1 gene.

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ClinVar annotation

Likely Pathogenic★★★☆

3 submitters6 publications

Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Autosomal recessive limb-girdle muscular dystrophy

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About POMGNT1

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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