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Arthrogryposis

Gene: CHST14

Green List (high evidence)

CHST14 (carbohydrate sulfotransferase 14)
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 21 Dec 2016, 2:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1 601776

Publications

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.

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

CHST14 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

21 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

CHST14 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

21 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CHST14 were set to 20004762, 20842734,

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHST14 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CHST14 was added to Arthrogryposispanel. Sources: Expert list