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Intellectual disability

Gene: PRKD1

Green List (high evidence)

PRKD1 (protein kinase D1)
EnsemblGeneIds (GRCh38): ENSG00000184304
EnsemblGeneIds (GRCh37): ENSG00000184304
OMIM: 605435, Gene2Phenotype
PRKD1 is in 4 panels

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: All cases reported to have developmental delay therefore include. Can review in the light of any new evidence.
Created: 13 Nov 2017, 4:18 p.m.
Three unrelated cases with heart defects and developmental delay (detail relatively limited). Included on this basis.
Created: 31 Oct 2017, noon

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

Phenotypes
Congenital heart defects and ectodermal dysplasia 617364

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:08 p.m.

Mode of inheritance
Unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications to support phenotype
Created: 19 Dec 2017, 3:42 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:22 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Congenital heart defects and ectodermal dysplasia 617364
OMIM
605435
Clinvar variants
Variants in PRKD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PRKD1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PRKD1 were set to 27479907; 25529582

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to PRKD1. Panel: Intellectual disability Model of inheritance for gene PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

PRKD1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

PRKD1 was created by BRIDGE