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Arthrogryposis

Gene: TMEM43

Red List (low evidence)

TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 9 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No association with arthrogryposis
Created: 22 Dec 2016, 2:47 p.m.

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

EDMD tpye presentation
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Arrhythmogenic right ventricular dysplasia 5, 604400

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).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM43 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen TMEM43 was added to Arthrogryposispanel. Source:

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM43 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMEM43 was created by ellenmcdonagh