Genomics England
GMS Panels
Panels
Genes and Entities

KIAA1109

KIAA1109
OMIM: 611565
PanelMode of inheritanceDetails
7 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome 617822
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome 617822, seizures
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome, 617822
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome, OMIM:617822
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome,617822
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome