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  3. APOB
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Additional findings health related - children

Gene: APOB

Green List (high evidence)
APOB (apolipoprotein B)
EnsemblGeneIds (GRCh38): ENSG00000084674
EnsemblGeneIds (GRCh37): ENSG00000084674
OMIM: 107730, Gene2Phenotype
APOB is in 9 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Adult and child
  • Familial hypercholesterolaemia
Transcripts
  • ENST00000233242.5
  • NM_000384.2
OMIM
107730
Clinvar variants
Variants in APOB
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Set transcript

Eleanor Williams (Genomics England Curator)

Transcript for gene APOB was changed from None to ENST00000233242.5; NM_000384.2

20 Apr 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: APOB was added gene: APOB was added to Additional findings health related child. Sources: Expert Review Green,Other Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APOB were set to Adult and child; Familial hypercholesterolaemia Mode of pathogenicity for gene: APOB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments