Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: PLCXD1

Red List (low evidence)

PLCXD1 (phosphatidylinositol specific phospholipase C X domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000182378
EnsemblGeneIds (GRCh37): ENSG00000182378
OMIM: 300974, Gene2Phenotype
PLCXD1 is in 1 panel

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: This gene is in the pseudoautosomal region shared between chromosomes X and Y. The mode of inheritance should therefore be set to Biallelic or Monoallelic once more cases establish the inheritance pattern.
Created: 24 Nov 2019, 3:23 p.m. | Last Modified: 24 Nov 2019, 3:23 p.m.
Panel Version: 2.1103

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

There is currently no evidence to suggest there is an association of this gene with intellectual disability.
Created: 18 Dec 2017, 3:39 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
OMIM
300974
Clinvar variants
Variants in PLCXD1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PLCXD1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Unknown

12 Mar 2018, Gel status: 1

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.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLCXD1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLCXD1 was created by ellenmcdonagh