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

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

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.

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