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Intellectual disability syndromic and non-syndromic

Gene: CHRNA4

Red List (low evidence)

CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)
EnsemblGeneIds (GRCh38): ENSG00000101204
EnsemblGeneIds (GRCh37): ENSG00000101204
OMIM: 118504, Gene2Phenotype
CHRNA4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID only reported in one family with this condition.
Created: 1 Feb 2020, 3:55 a.m. | Last Modified: 1 Feb 2020, 3:55 a.m.
Panel Version: 0.1856

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, nocturnal frontal lobe, 1, MIM# 600513

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
OMIM
118504
Clinvar variants
Variants in CHRNA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrna4 has been classified as Red List (Low Evidence).

1 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHRNA4 were set to

1 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513

1 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrna4 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNA4 was added gene: CHRNA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHRNA4 was set to Unknown