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Arthrogryposis

Gene: TCAP

Red List (low evidence)
TCAP (titin-cap)
EnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 9 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No association with arthrogryposis known
Created: 22 Dec 2016, 3:01 p.m.
Created: 22 Dec 2016, 3:01 p.m.

Panel version: 1.99

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

causes LGMD presentation typically, one case report consistent with CMd presentation (mild features) Ferreiro et al 2011
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Congenital muscular dystrophies

Created: 19 Dec 2016, 11:47 a.m.

Panel version: Imported from "Congenital muscular dystrophy" panel version 0.0

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)

TCAP was added to Arthrogryposispanel. Source: Emory Genetics Laboratory TCAP was added to Arthrogryposispanel. Source:

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TCAP was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TCAP was created by ellenmcdonagh