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Intellectual disability

Gene: PJA1

Red List (low evidence)

PJA1 (praja ring finger ubiquitin ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000181191
EnsemblGeneIds (GRCh37): ENSG00000181191
OMIM: 300420, Gene2Phenotype
PJA1 is in 1 panel

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

PMID:17941886 identified three girls with classical CFNS and mild developmental delay harboring de novo deletions of the EFNB1 gene. Applying haplotype analysis, Southern blot hybridization and array-comparative genomic hybridization, deletion of EFNB1 was found to be part of contiguous gene deletions in the patients, which included PJA1. in two of the patients. They had CFNS and developmental delay. There is an animal model in mice, Pja1 was found as one of the genes that showed pronounced and learning-specific induction in the amygdala. Accordingly, it has been suggested that Pja1 is involved in neural plasticity and fear memory (PMID:11533224)
Created: 18 Dec 2017, 3:39 p.m.

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

Phenotypes
Craniofrontonasal syndrome; CFNS; Intellectual disability

Publications

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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Craniofrontonasal syndrome
  • CFNS
  • Intellectual disability
OMIM
300420
Clinvar variants
Variants in PJA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene PJA1 was set to ['17941886', '12036302', '11533224']

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

Created

Ellen McDonagh (Genomics England Curator)

PJA1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PJA1 was added to Intellectual disabilitypanel. Sources: Expert Review Red