Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: NEB

Green List (high evidence)

NEB (nebulin)
EnsemblGeneIds (GRCh38): ENSG00000183091
EnsemblGeneIds (GRCh37): ENSG00000183091
OMIM: 161650, Gene2Phenotype
NEB is in 8 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P as causing arthrogryposis
Created: 22 Dec 2016, 10:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 2, autosomal recessive 256030

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy, Recessive
  • Nemaline myopathy 2, autosomal recessive, 256030
OMIM
161650
Clinvar variants
Variants in NEB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for NEB were set to 9359044

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

NEB was added to Arthrogryposispanel. Source: UKGTN NEB was added to Arthrogryposispanel. Source: Emory Genetics Laboratory NEB was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services NEB was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen NEB was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene NEB was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NEB was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NEB was created by ellenmcdonagh