Genomics England
GMS Panels
Panels
Genes and Entities

OCLN

occludin
OMIM: 602876
PanelMode of inheritanceDetails
7 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band-like calcification with simplified gyration and polymicrogyria, 251290
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria
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 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 1 251290
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band-like calcification with simplified gyration and polymicrogyria 251290
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay), Band-like calcification with simplified gyration and polymicrogyria
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band-like calcification with simplified gyration and polymicrogyria 251290
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe developmental delay with microcephaly, Band-like calcification with simplified gyration and polymicrogyria, Band-like calcification with simplified gyration and polymicrogyria, 251290