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Gene: BTD

Red List (low evidence)

Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997)

Created: 12 Dec 2024, 2:28 a.m. | Last Modified: 12 Dec 2024, 2:28 a.m.

Panel Version: 1.707

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Biotinidase deficiency MIM#253260

I don't know

Variable severity, but treatable disorder. Difficult to predict phenotype from genotype.

Created: 18 Aug 2022, 6:20 a.m. | Last Modified: 9 Sep 2022, 6:06 a.m.

Panel Version: 0.197

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Biotinidase deficiency (MIM#253260)

Red List (low evidence)

Well-established gene disease association. Genotype/phenotype correlations in biotinidase deficiency are not well established, decisions regarding treatment should be based on the results of enzyme activity rather than molecular genetic testing.

May be challenging to predict phenotypic outcome in a carrier screening context.
Sources: Literature

Created: 22 Jul 2022, 5:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Biotinidase deficiency (MIM#253260)

Publications

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