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Arthrogryposis

Gene: GBA

Green List (high evidence)

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Created: 30 Jun 2022, 3:18 p.m. | Last Modified: 30 Jun 2022, 4:14 p.m.
Panel Version: 3.159

Alice Gardham (Genomics England)

Green List (high evidence)

Perinatal lethal Gaucher is associated with arthrogryposis
Created: 4 Jan 2017, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaucher disease, perinatal lethal 608013

Publications

History Filter Activity

30 Jun 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name tag was added to gene: GBA.

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.

4 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).

4 Jan 2017, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for GBA were set to Gaucher disease, perinatal lethal 608013

4 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for GBA were set to 10649495

4 Jan 2017, Gel status: 3

Set Mode of Inheritance

Alice Gardham (Genomics England)

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

4 Jan 2017, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

GBA was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GBA was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GBA was created by ellenmcdonagh