Ketotic hypoglycaemia

Gene: BTD

Green List (high evidence)

BTD (biotinidase)
EnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 12 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer and rated green. It is a confirmed DD gene for biotinidase deficiency. Multiple cases and variants reported in OMIM for the association with biotinidase deficiency.
Created: 7 Jun 2016, 2:32 p.m.

History Filter Activity

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BTD was changed to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

BTD was added to Ketotic hypoglycaemiapanel. Sources: Literature