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Clefting disorders
Gene: GNB1

GNB1 (G protein subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000078369
EnsemblGeneIds (GRCh37): ENSG00000078369
OMIM: 139380, Gene2Phenotype
GNB1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cleft palate reported in ~10%.
Created: 5 Dec 2021, 3:39 a.m. | Last Modified: 5 Dec 2021, 3:39 a.m.

Panel Version: 0.156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

Publications

32134617

Created: 5 Dec 2021, 3:39 a.m.
Last Modified: 5 Dec 2021, 3:39 a.m.
Panel version: 0.156

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

OMIM

Clinvar variants

Variants in GNB1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb1 has been classified as Green List (High Evidence).

5 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 616973 to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973

5 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNB1 were set to 27108799

5 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb1 has been classified as Green List (High Evidence).

16 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNB1 was added gene: GNB1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB1 were set to 27108799 Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42, 616973