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  3. NBEA
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Paroxysmal Dyskinesia

Gene: NBEA

Amber List (moderate evidence)
NBEA (neurobeachin)
EnsemblGeneIds (GRCh38): ENSG00000172915
EnsemblGeneIds (GRCh37): ENSG00000172915
OMIM: 604889, Gene2Phenotype
NBEA is in 4 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

I don't know

only one report and I have seen a poster from an independent group (not published yet)
Sources: Literature
Created: 15 Sep 2023, 4:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability

Publications

Created: 15 Sep 2023, 4:49 a.m.

Panel version: 0.112

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157
  • Paroxysmal Kinesigenic Dyskinesia
  • DEE
  • autism
  • intellectual disability
OMIM
604889
Clinvar variants
Variants in NBEA
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nbea has been classified as Amber List (Moderate Evidence).

18 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NBEA were changed from Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nbea has been classified as Amber List (Moderate Evidence).

15 Sep 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: NBEA was added gene: NBEA was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NBEA were set to 33692494 Phenotypes for gene: NBEA were set to Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability Penetrance for gene: NBEA were set to unknown Review for gene: NBEA was set to AMBER