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Intellectual disability

Gene: PLXNB3

Red List (low evidence)

PLXNB3 (plexin B3)
EnsemblGeneIds (GRCh38): ENSG00000198753
EnsemblGeneIds (GRCh37): ENSG00000198753
OMIM: 300214, Gene2Phenotype
PLXNB3 is in 1 panel

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

No conclusive evidence for intellectual disability phenotype. PMID: 16152637 (2005) a 3-year-old Japanese boy with X-linked ALD (MIM:300100) whowas identified a partial deletion (exons 3 to 10) of the ABCD1 gene with fusion to the neighboring PLXNB3 gene. Sequencing showed that the breakpoints in ABCD1 and PLXNB3 gene. The mother was confirmed as a carrier of the deletion.
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)

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
OMIM
300214
Clinvar variants
Variants in PLXNB3
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 PLXNB3 was set to ['16152637']

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)

PLXNB3 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLXNB3 was created by ellenmcdonagh