Arthrogryposis
Gene: KBTBD13
Comment on list classification: Not associated with arthrogryposisCreated: 22 Dec 2016, 9:24 a.m.
Not associated with arthrogryposisCreated: 22 Dec 2016, 9:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nemaline myopathy 6, autosomal dominant 609273
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
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
KBTBD13 was added to Arthrogryposispanel. Sources: Expert list
KBTBD13 was created by ellenmcdonagh