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Arthrogryposis

Gene: KAT6B

Green List (high evidence)

KAT6B (lysine acetyltransferase 6B)
EnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 8 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on mode of pathogenicity: Dominant negative mutations
Created: 9 Jan 2017, 11:18 a.m.
Dominant negative mutations.
Associated with congenital contractures
Created: 9 Jan 2017, 11:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Genitopatellar syndrome 606170

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Genitopatellar syndrome 606170
OMIM
605880
Clinvar variants
Variants in KAT6B
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
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.

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

9 Jan 2017, Gel status: 3

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for KAT6B was changed to Other - please provide details in the comments

9 Jan 2017, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

KAT6B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

9 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

KAT6B was created by agardham