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BabyScreen+ newborn screening

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
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
OMIM
605491
Clinvar variants
Variants in NEBL
Penetrance
None
Panels with this gene

History Filter Activity

18 Sep 2022, 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 gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated