Brain Calcification
Gene: BTDEnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Biotinidase deficiency, MIM# 253260
Yetong Chen (University of Melbourne)
PMID 3399084 reports one case of Biotinidase Deficiency with basal ganglia calcification. However, no strong or moderate evidence suggests that variants in the BTN gene can cause brain calcification.
Sources: Expert listCreated: 28 Mar 2023, 12:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Biotinidase Deficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Biotinidase deficiency, MIM# 253260
- OMIM
- 609019
- Clinvar variants
- Variants in BTD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: btd has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BTD were changed from Biotinidase Deficiency to Biotinidase deficiency, MIM# 253260
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: btd has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: BTD was added gene: BTD was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 32734340; 3399084 Phenotypes for gene: BTD were set to Biotinidase Deficiency Review for gene: BTD was set to RED