POMT2 Chromosome 14

Protein O-mannosyltransferase 2
203 variants 203 Health Risk

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What This Gene Does
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Dolichyl D-mannosyl phosphate dependent mannosyltransferases
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000009830
Associated Conditions (14)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder
type A1
Inborn genetic diseases
Lung cancer
Intellectual disability
Autosomal recessive limb-girdle muscular dystrophy
Abnormal brain morphology
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Muscular dystrophy
Key Variants
RS1026361359
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1057522317
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1253447533
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Health Risk
RS1292248431
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Health Risk
RS139308429
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS141193672
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS141339355
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS142299878
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Health Risk
RS142479943
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS142916824
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Health Risk
RS144748043
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1452558347
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
All Variants (203)
RSID Category Clinical Significance Conditions
RS2503171373 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503193443 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503197133 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503197148 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503203091 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503227003 Health Risk Pathogenic —
RS2503227032 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503227296 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503267774 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503308679 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503370932 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503371405 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2503372158 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS267606963 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS267606965 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS267606966 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS267606969 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS368817785 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS533916138 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS587777815 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS727503873 Health Risk Pathogenic —
RS752440109 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
RS754755294 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS764210532 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS764878423 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
RS766169193 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS773017813 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS797045898 Health Risk Pathogenic Muscular dystrophy, Muscular dystrophy
RS886042094 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886042401 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886044256 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS995812794 Health Risk Pathogenic —
RS1206233497 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1229291913 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1257697617 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1318210394 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Autosomal recessive limb-girdle muscular dystrophy type 2N
RS1326631351 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1450297382 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1555352706 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1566656247 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1594796439 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS200198778 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS200542239 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503308246 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS267606971 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS727502855 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS748900993 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Autosomal recessive limb-girdle muscular dystrophy type 2N
RS755660222 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS775932206 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS778947923 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
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