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Arthrogryposis

Gene: GBE1

Green List (high evidence)

GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 18 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Congenital contractures seen in fatal perinatal neuromuscular form and congenital neuromuscular form
Created: 5 Jan 2017, 9:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IV 232500

Publications

History Filter Activity

16 Jan 2017, Gel status: 4

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.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

5 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for GBE1 were set to Glycogen storage disease IV 232500

5 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for GBE1 were set to 8613547

5 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for GBE1 was changed to BIALLELIC, autosomal or pseudoautosomal

5 Jan 2017, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

GBE1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

5 Jan 2017, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

GBE1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GBE1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GBE1 was created by ellenmcdonagh