Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: BOLA1

Red List (low evidence)

BOLA1 (bolA family member 1)
EnsemblGeneIds (GRCh38): ENSG00000178096
EnsemblGeneIds (GRCh37): ENSG00000178096
OMIM: 613181, Gene2Phenotype
BOLA1 is in 2 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature
Created: 3 Feb 2016, 6:13 p.m.

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • No OMIM phenotype
OMIM
613181
Clinvar variants
Variants in BOLA1
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: BOLA1 was added gene: BOLA1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BOLA1 was set to Unknown Phenotypes for gene: BOLA1 were set to No OMIM phenotype