Congenital myaesthenic syndrome

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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).
Created: 10 May 2019, 11:15 a.m.
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: >3 unrelated cases of CHRNG causing Escobar syndrome and Multiple pterygium syndrome/MPS, characterized by muscle weakness.
Created: 2 Feb 2017, 11:27 a.m.
Comment on list classification: Updated rating from Red to Green: 1 Green review, confirmed link to Escboar syndrome on DD-G2P, >3 cases of CHRNG mutations causing Escobar syndrome. PMID:16826520 describe Escobar syndrome as a prenatal myasthenia.
Created: 2 Feb 2017, 11:26 a.m.
CHRNG is a confirmed DD-G2P gene for Escobar syndrome (OMIM:265000).
Created: 2 Feb 2017, 11:24 a.m.
Multiple pterygium syndrome (MPS, OMIM:253290) is a condition characterised by prenatal growth failure with pterygium and akinesia leading to muscle weakness and severe congenital contractures, as well as scoliosis. Escobar syndrome (OMIM:265000) is the non-lethal form of (lethal)MPS. >3 unrelated cases in varied populations of CHRNG subunits causing Escobar Syndrome (a prenatal myasthenia: see PMID:16826520).
Created: 2 Feb 2017, 11:24 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 31 Jan 2017, 4:36 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence; multiple pterygium syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenia gravis, neonatal transient
  • Neonatal congenital myasthenia
  • escobar syndrome
  • fetal akinesia deformation sequence syndrome/FADS
  • multiple pterygium syndrome/MPS
OMIM
100730
Clinvar variants
Variants in CHRNG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CHRNG were set to 16826531; 22167768; 27245440; 25411939; 8040310; PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CHRNG.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CHRNG. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

2 Feb 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CHRNG were set to 16826531; 22167768; 27245440; 25411939; 8040310; PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).

31 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CHRNG were set to Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS

31 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CHRNG was changed to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CHRNG were set to Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence/FADS; multiple pterygium syndrome/MPS

31 Jan 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CHRNG were set to 16826531; 22167768; 27245440; 25411939

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CHRNG was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen