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Additional findings_Paediatric

Gene: NEBL

Red List (low evidence)

NEBL (nebulette)
EnsemblGeneIds (GRCh38): ENSG00000078114
EnsemblGeneIds (GRCh37): ENSG00000078114
OMIM: 605491, Gene2Phenotype
NEBL is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Cardiomyopathy, dilated
OMIM
605491
Clinvar variants
Variants in NEBL
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEBL was added gene: NEBL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated