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Arthrogryposis

Gene: TMEM5

Green List (high evidence)

TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 18 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1
Created: 21 Mar 2018, 1:14 p.m.

Alice Gardham (Genomics England)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to expert review and additional curation. More than 3 cases/families reported.
Created: 19 Dec 2016, 2:33 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

WWs/ MEB type phenotype. Cobblestone lissencephaly.
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

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.

9 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: 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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM5 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,,Expert Review Green

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMEM5 was created by ellenmcdonagh