Genomics England
GMS Panels
Panels
Genes and Entities

OCLN

occludin
OMIM: 602876
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 1 251290
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
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 8.0
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 7.0
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 6.0
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