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Intellectual disability syndromic and non-syndromic

Gene: GNB5

Green List (high 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)

Green List (high evidence)

Multiple affected individuals reported.
Sources: Expert list
Created: 22 Jan 2020, 9:08 p.m.

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 Green
  • 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

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb5 has been classified as Green List (High Evidence).

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb5 has been classified as Green List (High Evidence).

22 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNB5 was added gene: GNB5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331 Phenotypes for gene: GNB5 were set 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) Review for gene: GNB5 was set to GREEN gene: GNB5 was marked as current diagnostic