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  2. IUGR and IGF abnormalities
  3. BTK
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IUGR and IGF abnormalities

Gene: BTK

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

4 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Richard Scott (Genomics England Curator)

Comment when marking as ready: Insufficient published evidence to date of growth hormone deficiency as part of the BTK mutation-related phenotype.
Created: 2 May 2016, 8:04 p.m.
Created: 2 May 2016, 8:04 p.m.

Panel version: 0.199

History Filter Activity

2 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BTK was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory