GEO DataSets

(Submitter supplied) Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki syndrome genes. In 2, we identified presumptive loss of function de novo variants in KMT2A (missense and splice site variants), a gene that encodes another histone modifying enzyme previously exclusively associated with Wiedermann-Steiner syndrome. more...

Organism:

Homo sapiens

Type:

Methylation profiling by genome tiling array

Platform:

GPL13534

44 Samples

Download data: IDAT, TXT

(Submitter supplied) 1 difference between HumanMethylation450_15017482_v.1.1.bpm and HumanMethylation450_15017482_v.1.2.bpm: 1.1: 41636384,NEGATIVE,-99,Negative 604 1.2: 41636384,RESTORATION,Green,Restore Protocol: See manufacturer's website

Organism:

Homo sapiens

1686 Series

1 Related Platform

119315 Samples

Download data: BPM, CSV, TXT, XLSX