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Intellectual disability syndromic and non-syndromic

Gene: PRKD1

Amber List (moderate evidence)

PRKD1 (protein kinase D1)
EnsemblGeneIds (GRCh38): ENSG00000184304
EnsemblGeneIds (GRCh37): ENSG00000184304
OMIM: 605435, Gene2Phenotype
PRKD1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England)

I don't know

- PMID: 27479907 (2016) - Only two of the three patients had ID, which may possibly be secondary to microcephaly. The two individuals carried a c.1774G>A and c.896T>G variant, respectively; however, a third patient also harbouring the c.1774G>A variant did not display any neuropsychological signs (or microcephaly) at 4.86 years (see supplementary table 12).

- PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, respectively. These patients shared cardiac and ectodermal abnormalities, as with the previously described patients; however, mental development was normal in both individuals.
Created: 2 Oct 2020, 12:52 p.m. | Last Modified: 2 Oct 2020, 12:52 p.m.
Panel Version: 0.3047

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

Phenotypes
Congenital heart defects and ectodermal dysplasia, 617364

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Literature reviewed again: ID/DD reported in 2/5 but unclear at present if this is part of the phenotype given low number of affected individuals.
Created: 2 Oct 2020, 9:46 p.m. | Last Modified: 2 Oct 2020, 9:46 p.m.
Panel Version: 0.3049
DD/ID is part of the phenotype.
Created: 11 May 2020, 11:06 a.m. | Last Modified: 11 May 2020, 11:06 a.m.
Panel Version: 0.2632

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects and ectodermal dysplasia, 617364

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, 617364
OMIM
605435
Clinvar variants
Variants in PRKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkd1 has been classified as Amber List (Moderate Evidence).

2 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKD1 were set to 27479907

2 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkd1 has been classified as Amber List (Moderate Evidence).

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkd1 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKD1 were changed from to Congenital heart defects and ectodermal dysplasia, 617364

11 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKD1 were set to

11 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKD1 was added gene: PRKD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKD1 was set to Unknown