Genomics England
GMS Panels
Panels
Genes and Entities

KANSL1

KAT8 regulatory NSL complex subunit 1
OMIM: 612452
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Koolen-De Vries syndrome, 610443, Intellectual Disability Syndrome, CHROMOSOME 17Q21.31 MICRODELETION SYNDROME