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Cataract

Gene: BTK

Red List (low evidence)

BTK (Bruton tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 13 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Cataract is not a typical feature of this condition (OMIM; gene reviews)
Created: 20 Mar 2020, 4:45 a.m. | Last Modified: 20 Mar 2020, 4:45 a.m.
Panel Version: 0.19

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

Phenotypes
X-linked agammaglobulinemia; isolated growth hormone deficiency type III with agammaglobulinemia

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked agammaglobulinemia
  • isolated growth hormone deficiency type III with agammaglobulinemia
OMIM
300300
Clinvar variants
Variants in BTK
Penetrance
None
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btk has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BTK were changed from to X-linked agammaglobulinemia; isolated growth hormone deficiency type III with agammaglobulinemia

6 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btk has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BTK was added gene: BTK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BTK was set to Unknown