Arthrogryposis
Gene: KAT6BEnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 8 panels
1 review
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Dominant negative mutationsCreated: 9 Jan 2017, 11:18 a.m.
Dominant negative mutations.
Associated with congenital contracturesCreated: 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
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for KAT6B was changed to Other - please provide details in the comments
Added New Source
Alice Gardham (Genomics England)KAT6B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Created
Alice Gardham (Genomics England)KAT6B was created by agardham