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  3. PRKAR1B
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DDG2P

Gene: PRKAR1B

Green List (high evidence)
PRKAR1B (protein kinase cAMP-dependent type I regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000188191
EnsemblGeneIds (GRCh37): ENSG00000188191
OMIM: 176911, Gene2Phenotype
PRKAR1B is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PRKAR1B-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33833410). The cross-cutting modifiers are potential secondary finding and restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03017.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease PRKAR1B-related developmental disorder is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 33057194;33833410).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PRKAR1B-related developmental disorder

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRKAR1B-related developmental disorder
OMIM
176911
Clinvar variants
Variants in PRKAR1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PRKAR1B was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PRKAR1B was added gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1B were set to 33057194; 33833410 Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder Mode of pathogenicity for gene: PRKAR1B was set to Other