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Prepair 1000+

Gene: BTD

Amber List (moderate evidence)

BTD (biotinidase)
EnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 11 panels

3 reviews

Lilian Downie (Victorian Clinical Genetics Services)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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)

Crystle Lee (Victorian Clinical Genetics Services)

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

History Filter Activity

9 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btd has been classified as Amber List (Moderate Evidence).

9 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btd has been classified as Green List (High Evidence).

9 Sep 2022, Gel status: 2

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: BTD.

18 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btd has been classified as Amber List (Moderate Evidence).

18 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btd has been classified as Amber List (Moderate Evidence).

26 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: BTD.

22 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: BTD was added gene: BTD was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 16435182; 20301497; 32440248 Phenotypes for gene: BTD were set to Biotinidase deficiency (MIM#253260) Review for gene: BTD was set to RED