Congenital myaesthenic syndrome

Gene: GFPT1

Green List (high evidence)

GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000198380
EnsemblGeneIds (GRCh37): ENSG00000198380
OMIM: 138292, Gene2Phenotype
GFPT1 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

PMID:21975507;In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous.
Created: 10 May 2019, 11:09 a.m.
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates

Rebecca Foulger (Genomics England curator)

When mutations in GFPT1 were first identified as a cause of CMS, a number of patients (were found to have the transversion c.22C>A in the 3'-UTR of the gene. IN all four cases, the mutation was found compound heterozygous to a missense or protein-truncating mutation. This variant creates a microRNA binding site, and binding of microRNA206 reduced GFPT1 expression [Dusl et al., 2015 PMID:25765662]. Dusl et al., propose that variants in the 3'UTR should therefore be considered during genetic testing.
Created: 2 Feb 2017, 2:49 p.m.
Comment when marking as ready: Green review plus >3 cases of GFPT1 mutations causing Congenital Myasthenic Syndrome (OMIM:610542) plus zebrafish animal model.
Created: 26 Jan 2017, 5:04 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 26 Jan 2017, 4:57 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Limb-girdle congenital myasthenic syndrome; tubular aggregates

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Limb-girdle congenital myasthenic syndrome
  • tubular aggregates
OMIM
138292
Clinvar variants
Variants in GFPT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GFPT1 were set to 21975507; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109; 23569079

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GFPT1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to GFPT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GFPT1 were set to 21975507; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109; 23569079

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GFPT1 were set to 21975507; 21310273; 22230109; 23569079

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GFPT1 were set to 21975507; 21310273; 22230109; 23569079;

26 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GFPT1 was changed to BIALLELIC, autosomal or pseudoautosomal

26 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GFPT1 were set to Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

GFPT1 was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GFPT1 was added to Congenital myaestheniapanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GFPT1 was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services