Growth failure in early childhood
Gene: BTKEnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels
3 reviews
Catherine Snow (Genomics England)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBERCreated: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber. BTK is confirmed to be associated with isolated growth hormone deficiency in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients diagnosed with growth hormone deficiency who have variants in BTK.
There is enough evidence to support a gene-disease association. This gene is also Green on the Pituitary hormone deficiency (ID: 483, version 2.7). This gene has been tagged for review by the GMS specialist group to determine whether this gene is appropriate for this panel.Created: 1 Nov 2021, 8:31 a.m. | Last Modified: 1 Nov 2021, 8:31 a.m.
Panel Version: 1.92
Zornitza Stark (Australian Genomics)
At least 4 families reported with GH deficiency plus agammaglobulinaemia.Created: 14 Aug 2021, 5:20 a.m. | Last Modified: 14 Aug 2021, 5:20 a.m.
Panel Version: 1.71
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200
- OMIM
- 300300
- Clinvar variants
- Variants in BTK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Agammaglobulinaemia with absent BTK expression
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pituitary hormone deficiency
- Monogenic short stature
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Osteogenesis imperfecta
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: BTK. Tag Q4_21_rating was removed from gene: BTK. Tag Q4_21_phenotype was removed from gene: BTK.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_rating tag was added to gene: BTK.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: BTK.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_phenotype tag was added to gene: BTK.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: btk has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BTK were changed from to Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: BTK were set to
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: BTK was added gene: BTK was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: BTK was set to Unknown