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  2. Arthrogryposis
  3. KBTBD13
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Arthrogryposis

Gene: KBTBD13

Red List (low evidence)
KBTBD13 (kelch repeat and BTB domain containing 13)
EnsemblGeneIds (GRCh38): ENSG00000234438
EnsemblGeneIds (GRCh37): ENSG00000234438
OMIM: 613727, Gene2Phenotype
KBTBD13 is in 6 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Not associated with arthrogryposis
Created: 22 Dec 2016, 9:24 a.m.
Not associated with arthrogryposis
Created: 22 Dec 2016, 9:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nemaline myopathy 6, autosomal dominant 609273

Created: 22 Dec 2016, 9:23 a.m.

Panel version: 1.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Nemaline Myopathy, Dominant
  • Nemaline myopathy 6, autosomal dominant, 609273
OMIM
613727
Clinvar variants
Variants in KBTBD13
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)

KBTBD13 was added to Arthrogryposispanel. Source: UKGTN KBTBD13 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services KBTBD13 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen KBTBD13 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KBTBD13 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KBTBD13 was created by ellenmcdonagh