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Fetal anomalies

Gene: GNB5

Red List (low evidence)

GNB5 (G protein subunit beta 5)
EnsemblGeneIds (GRCh38): ENSG00000069966
EnsemblGeneIds (GRCh37): ENSG00000069966
OMIM: 604447, Gene2Phenotype
GNB5 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presentation is typically post-natal.

Sources: Expert list
Created: 22 Jan 2020, 9:08 p.m. | Last Modified: 9 Feb 2022, 6:33 a.m.
Panel Version: 0.3232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Intellectual developmental disorder with cardiac arrhythmia, 617173
  • Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182
  • Early infantile epileptic encephalopathy (EIEE)
OMIM
604447
Clinvar variants
Variants in GNB5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb5 has been classified as Red List (Low Evidence).

9 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNB5 were changed from Sinus Bradycardia and Cognitive Disability to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)

9 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNB5 were set to

9 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb5 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNB5 was added gene: GNB5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability