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Fetal anomalies

Gene: PRKACB

Green List (high evidence)

PRKACB (protein kinase cAMP-activated catalytic subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000142875
EnsemblGeneIds (GRCh37): ENSG00000142875
OMIM: 176892, Gene2Phenotype
PRKACB is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous variants reported in 4 unrelated probands with Cardioacrofacial dysplasia-2 (CAFD2) - characterized by congenital cardiac defects (atrium or atrioventricular septal defect mainly); limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly); and dysmorphic facial features. Developmental delay of variable severity has also been observed
Sources: Literature, Expert list
Created: 20 Dec 2021, 3:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardioacrofacial dysplasia 2 - MIM#619143

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 2 - MIM#619143
OMIM
176892
Clinvar variants
Variants in PRKACB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: PRKACB was added gene: PRKACB was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2 - MIM#619143 Review for gene: PRKACB was set to GREEN