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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Characterized by a spectrum of neurodevelopmental phenotypes that range from severe-to-profound intellectual disability (ID; 31/41 reported individuals), to mild-to-moderate ID (5/41), to normal intellect with severe language disorder (5/41, one
extended family).
- Most individuals with severe and profound ID have a developmental and epileptic encephalopathy with focal seizures or epileptic spasms, as well as visual impairment (central or retinal) with nystagmus, difficulty feeding, and gastroesophageal
reflux disease.
-Variants predicted to cause protein truncation are associated with a severe neurodevelopmental phenotype
-Nine individuals from four families who are homozygous for a recurrent missense variant affecting residue
123 (p.Ser123Leu) have either mild ID or language delay without ID
Created: 17 Nov 2024, 10:30 p.m. | Last Modified: 17 Nov 2024, 10:30 p.m.
Panel Version: 1.547

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)

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
  • Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173)
  • Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
OMIM
604447
Clinvar variants
Variants in GNB5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

18 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)

18 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GNB5 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive for gene: GNB5

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: GNB5 was added gene: GNB5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive