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Severe Paediatric Disorders

Gene: BTK

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: BTK; Recommended initial gene rating: Green List (high evidence); Phenotypes: Agammaglobulinemia, X-linked 1, 300755 (3) | Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3); Mode of inheritance: X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200
  • Agammaglobulinemia, X-linked 1, 300755
OMIM
300300
Clinvar variants
Variants in BTK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene BTK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene BTK were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to BTK.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to BTK. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BTK was added gene: BTK was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: BTK was set to