Genomics England
GMS Panels
Panels
Genes and Entities

KIAA0556

KIAA0556
OMIM: 616650
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771