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Arthrogryposis

Gene: LAMP2

Red List (low evidence)

LAMP2 (lysosomal associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 22 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment on mode of inheritance: ?XLD
Created: 22 Dec 2016, 1:27 p.m.
Comment on list classification: Not associated with arthrogryposis
Created: 22 Dec 2016, 1:26 p.m.
Not associated with arthrogryposis
Created: 22 Dec 2016, 1:26 p.m.

Mode of inheritance
Other

Phenotypes
Danon disease 300257

Publications

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.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 1

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for LAMP2 were set to Danon disease 300257

22 Dec 2016, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for LAMP2 were set to 10972294

22 Dec 2016, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for LAMP2 was changed to Unknown

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

LAMP2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMP2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAMP2 was created by ellenmcdonagh