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  3. CFL2
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Arthrogryposis

Gene: CFL2

Red List (low evidence)
CFL2 (cofilin 2)
EnsemblGeneIds (GRCh38): ENSG00000165410
EnsemblGeneIds (GRCh37): ENSG00000165410
OMIM: 601443, Gene2Phenotype
CFL2 is in 4 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Not associated with arthrogryposis
Created: 22 Dec 2016, 9:13 a.m.
Not associated with arthrogryposis
Created: 22 Dec 2016, 9:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 7, autosomal recessive 610687

Created: 22 Dec 2016, 9:12 a.m.

Panel version: 1.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert
  • Expert list
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, 610687
  • Nemaline Myopathy, Recessive
OMIM
601443
Clinvar variants
Variants in CFL2
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

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: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

CFL2 was added to Arthrogryposispanel. Source: UKGTN CFL2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen CFL2 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CFL2 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene CFL2 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CFL2 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CFL2 was added to Arthrogryposispanel. Sources: Expert list