Newborns main panel

Gene: BTD

Special Consideration: Awareness.

Additional Information: The p.Ala151Thr (ENST00000643237.3:c.451G>A) variant in BTD has been reported in several homozygous and compound heterozygous individuals with biotinidase deficiency (https://www.ncbi.nlm.nih.gov/clinvar/variation/38298/)

p.Ala151Thr can occur in cis with p.Asp424His (ENST00000643237.3:c.1270G>C) as part of a complex allele causing profound biotinidase deficiency (https://pubmed.ncbi.nlm.nih.gov/10206677/)

Please note that c.1270G>C has been excluded from pipeline prioritisation due to the high number of variants that require manual review as this variant in isolation is not reportable as part of the programme. If c.451G>A (p.Ala151Thr) is observed, the sample should be manually reviewed in IGV and/or vcf to check the genotype of c.1270 (GRCh38 3:15645186) as this could affect the outcome of interpretation.

Created: 2 Oct 2024, 1:05 p.m. | Last Modified: 2 Oct 2024, 1:05 p.m.

Panel Version: 0.469

The mechanism of pathogenicity is loss-of-function (LOF).

Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.

Panel Version: 0.137

https://search.clinicalgenome.org/kb/genes/HGNC:1122

Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134