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Arthrogryposis

Gene: GFPT1

Red List (low evidence)

GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000198380
EnsemblGeneIds (GRCh37): ENSG00000198380
OMIM: 138292, Gene2Phenotype
GFPT1 is in 8 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: No clear association with arthrogryposis
Created: 4 Jan 2017, 11:35 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenia, congenital, with tubular aggregates 1, 610542
OMIM
138292
Clinvar variants
Variants in GFPT1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

GFPT1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services GFPT1 was added to Arthrogryposispanel. Source: UKGTN GFPT1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GFPT1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GFPT1 was created by ellenmcdonagh