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Arthrogryposis

Gene: CHRNG

Green List (high evidence)

CHRNG (cholinergic receptor nicotinic gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000196811
EnsemblGeneIds (GRCh37): ENSG00000196811
OMIM: 100730, Gene2Phenotype
CHRNG is in 8 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 21 Dec 2016, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Escobar syndrome 265000; Multiple pterygium syndrome, lethal type 253290

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Escobar syndrome 265000
  • Multiple pterygium syndrome, lethal type 253290
  • Myasthenia gravis, neonatal transient (2)
OMIM
100730
Clinvar variants
Variants in CHRNG
Penetrance
Complete
Publications
Panels with this gene

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

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for CHRNG were set to Escobar syndrome 265000; Multiple pterygium syndrome, lethal type 253290

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CHRNG were set to 16826520,16826531

21 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 0

Set Mode of Inheritance

Alice Gardham (Genomics England)

Model of inheritance for gene CHRNG was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHRNG was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNG was added to Arthrogryposispanel. Sources: Expert list