Gene: POMGNT1

Alternate names for this Gene: GNTI.2|GnT I.2|LGMD2O|LGMDR15|MEB|MGAT1.2|RP76|gnT-I.2

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Type of Gene: protein-coding

Gene: TSPAN1

Alternate names for this Gene: NET1|TM4C|TM4SF

Gene Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: tetraspanin 1

Type of Gene: protein-coding

rs386834034 in POMGNT1;TSPAN1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs28942068 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

PMID 15207699 2004 Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 12588800 2003 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

rs190057175 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 28424332 2017 Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

rs190057175 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 PMID 28424332 2017 Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 18195152 2008 Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

rs190057175 in POMGNT1;TSPAN1 gene and Muscle eye brain disease PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 23453855 2013 Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.

PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

PMID 12849864 2003 Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 12588800 2003 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

rs386834034 in POMGNT1;TSPAN1 gene and Pachygyria PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and Polymicrogyria PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs190057175 in POMGNT1;TSPAN1 gene and RETINITIS PIGMENTOSA 76 PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

PMID 26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

PMID 28688748 2017 Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

rs386834034 in POMGNT1;TSPAN1 gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and Severe intellectual disability PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.