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Prepair 1000+

Gene: CHRNG

Green List (high evidence)

CHRNG (cholinergic receptor nicotinic gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000196811
EnsemblGeneIds (GRCh37): ENSG00000196811
OMIM: 100730, Gene2Phenotype
CHRNG is in 12 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Well established gene-disease association. Severe perinatal disorders.
- More than 20 unrelated families reported, with lethal and non-lethal multiple pterygium syndrome. Arthrogryposis is a prominent feature of these conditions.
Created: 28 Aug 2024, 6:46 a.m. | Last Modified: 28 Aug 2024, 6:46 a.m.
Panel Version: 1.236

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Escobar syndrome (MIM# 265000); Multiple pterygium syndrome, lethal type, (MIM# 253290)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Escobar syndrome (MIM# 265000)
  • Multiple pterygium syndrome, lethal type, (MIM# 253290)
OMIM
100730
Clinvar variants
Variants in CHRNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: chrng has been classified as Green List (High Evidence).

29 Aug 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: CHRNG were changed from Escobar syndrome, 265000 (3) to Escobar syndrome (MIM# 265000); Multiple pterygium syndrome, lethal type, (MIM# 253290)

29 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CHRNG were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Escobar syndrome, 265000 (3) for gene: CHRNG

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNG was added gene: CHRNG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)