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Intellectual disability

Gene: BTK

Red List (low evidence)

BTK (Bruton tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Candidate gene (PMID 26350204). Associated with phenotype in OMIM, not in G2P. Numerous variants reported, however, the phenotypes do not include intellectual disability
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

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, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Agammaglobulinemia and isolated hormone deficiency 307200
  • Agammaglobulinemia, X-linked 1 300755
OMIM
300300
Clinvar variants
Variants in BTK
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 mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene BTK was set to ['26350204']

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)

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

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BTK was created by ellenmcdonagh